Overview

Carnitine Palmitoyltransferase I (CPT Ia) is an enzyme that regulates entry of long chain fatty acids into the mitochondria for oxidation. Classic CPT I deficiency is a very rare disorder that presents with hypoketotic hypoglyemia with a risk of sudden unexpected death.

Our research group identified a variant in the CPT Ia gene that is common in BC First Nations. Individuals who are homozygous for the CPT I P479L variant have reduced, but not deficient, CPT I enzyme activity. This CPT I variant, is most prevalent along coastal regions of BC and on Vancouver Island. Approximately 20% of First Nations are homozygous for the CPTI variant along the BC coast compared to 4% in the Interior regions of the province. Every year in BC, ~ 200 babies are born with the CPT I P479L variant. The vast majority of babies with the CPT I variant are healthy and do not develop health problems. However, it is possible the CPT I variant may lead to low blood sugar in some children during long periods of fasting especially when fasting occurs during inter-current illness (fever, vomiting or diarrhea). By investigation of sudden unexpected death (SUD) cases in BC, our research group found an association between the CPT I variant and SUD.

Publications

Evaluation of the quality of clinical data collection for a pan-Canadian cohort of children affected by inherited metabolic diseases: Lessons learned from the Canadian Inherited Metabolic Diseases Research Network
Orphanet Journal of Rare Diseases
Tingley, K. and Lamoureux, M. and Pugliese, M. and Geraghty, M.T. and Kronick, J.B. and Potter, B.K. and Coyle, D. and Wilson, K. and Kowalski, M. and Austin, V. and Brunel-Guitton, C. and Buhas, D. and Chan, A.K.J. and Dyack, S. and Feigenbaum, A. and Giezen, A. and Goobie, S. and Greenberg, C.R. and Ghai, S.J. and Inbar-Feigenberg, M. and Karp, N. and Kozenko, M. and Langley, E. and Lines, M. and Little, J. and MacKenzie, J. and Maranda, B. and Mercimek-Andrews, S. and Mohan, C. and Mhanni, A. and Mitchell, G. and Mitchell, J.J. and Nagy, L. and Napier, M. and Pender, A. and Potter, M. and Prasad, C. and Ratko, S. and Salvarinova, R. and Schulze, A. and Siriwardena, K. and Sondheimer, N. and Sparkes, R. and Stockler-Ipsiroglu, S. and Trakadis, Y. and Turner, L. and Van Karnebeek, C. and Vallance, H. and Vandersteen, A. and Walia, J. and Wilson, A. and Wilson, B.J. and Yu, A.C. and Yuskiv, N. and Chakraborty, P.
DOI: 10.1186/s13023-020-01358-z
2020

Performance of a three-tier (IRT-DNA-IRT) cystic fibrosis screening algorithm in British Columbia
International Journal of Neonatal Screening
Sinclair, G. and McMahon, V. and Schellenberg, A. and Nelson, T.N. and Chilvers, M. and Vallance, H.
DOI: 10.3390/ijns6020046
2020

Clinical Impact and Cost Efficacy of Newborn Screening for Congenital Adrenal Hyperplasia
Journal of Pediatrics
Fox, D.A. and Ronsley, R. and Khowaja, A.R. and Haim, A. and Vallance, H. and Sinclair, G. and Amed, S.
DOI: 10.1016/j.jpeds.2019.12.057
2020

Reference intervals for serum total vitamin B12 and holotranscobalamin concentrations and their change points with methylmalonic acid concentration to assess vitamin B12 status during early and mid-pregnancy.
Clinical chemistry and laboratory medicine
Schroder TH and Tan A and Mattman A and Sinclair G and Barr SI and Vallance HD and Lamers Y
DOI: 10.1515/cclm-2018-1337
PubMed: 31085739
05/2019

Health services use among children diagnosed with medium-chain acyl-CoA dehydrogenase deficiency through newborn screening: a cohort study in Ontario, Canada.
Orphanet journal of rare diseases
Karaceper MD and Khangura SD and Wilson K and Coyle D and Brownell M and Davies C and Dodds L and Feigenbaum A and Fell DB and Grosse SD and Guttmann A and Hawken S and Hayeems RZ and Canadian Inherited Metabolic Diseases Research Network (CIMDRN)
DOI: 10.1186/s13023-019-1001-0
PubMed: 30902101
03/2019

The p.P479L variant in CPT1A is associated with infectious disease in a BC First Nation
Paediatrics and Child Health (Canada)
Sinclair, G. and Collins, S. and Arbour, L. and Vallance, H.
DOI: 10.1093/pch/pxy106
2019

Serum Betaine and Dimethylglycine Are Higher in South Asian Compared with European Pregnant Women in Canada, with Betaine and Total Homocysteine Inversely Associated in Early and Midpregnancy, Independent of Ethnicity
Journal of Nutrition
Mujica-Coopman, M.F. and Tan, A. and Schroder, T.H. and Sinclair, G. and Vallance, H.D. and Lamers, Y.
DOI: 10.1093/jn/nxz178
2019

Atypical cerebral palsy: genomics analysis enables precision medicine
Genetics in Medicine
Matthews, A.M. and Blydt-Hansen, I. and Al-Jabri, B. and Andersen, J. and Tarailo-Graovac, M. and Price, M. and Selby, K. and Demos, M. and Connolly, M. and Dr{\"o}gemoller, B. and Shyr, C. and Mwenifumbo, J. and Elliott, A.M. and Lee, J. and Ghani, A. and St{\"o}ckler, S. and Salvarinova, R. and Vallance, H. and Sinclair, G. and Ross, C.J. and Wasserman, W.W. and McKinnon, M.L. and Horvath, G.A. and Goez, H. and van Karnebeek, C.D.
DOI: 10.1038/s41436-018-0376-y
2019

A mitochondrial DNA D loop insertion detected almost exclusively in non-replicating tissues with maternal inheritance across three generations
Mitochondrion
Sharma, M.A. and Lee, J.Y.J. and Tam, A. and Sattha, B. and Mackenzie, I.R. and Vallance, H.D. and Sirrs, S. and Hannah-Shmouni, F. and C{\^o}t{\'e}, H.C.F. and Mattman, A.
DOI: 10.1016/j.mito.2018.08.002
2019

Sialic acid catabolism by N-acetylneuraminate pyruvate lyase is essential for muscle function.
JCI insight
Wen XY and Tarailo-Graovac M and Brand-Arzamendi K and Willems A and Rakic B and Huijben K and Da Silva A and Pan X and El-Rass S and Ng R and Selby K and Philip AM and Yun J and Ye XC and Lefeber DJ
DOI: 10.1172/jci.insight.122373
PubMed: 30568043
12/2018

Marked elevation in plasma trimethylamine-N-oxide (TMAO) in patients with mitochondrial disorders treated with oral l-carnitine.
Molecular genetics and metabolism reports
DOI: 10.1016/j.ymgmr.2018.04.005
PubMed: 30023305
05/2018

Pregnant women of South Asian ethnicity in Canada have substantially lower vitamin B12 status compared with pregnant women of European ethnicity
British Journal of Nutrition
Theresa H. Schroder and Graham Sinclair and Andre Mattman and Benjamin Jung and Susan I. Barr and Hilary D. Vallance and Yvonne Lamers
DOI: 10.1017/s0007114517002331
09/2017

Pregnant women of South Asian ethnicity in Canada have substantially lower vitamin B12 status compared with pregnant women of European ethnicity
British Journal of Nutrition
Schroder, T.H. and Sinclair, G. and Mattman, A. and Jung, B. and Barr, S.I. and Vallance, H.D. and Lamers, Y.
DOI: 10.1017/S0007114517002331
2017

Optic atrophy, cataracts, lipodystrophy/lipoatrophy, and peripheral neuropathy caused by a de novoOPA3mutation
Molecular Case Studies
Stephanie C. Bourne and Katelin N. Townsend and Casper Shyr and Allison Matthews and Scott A. Lear and Raj Attariwala and Anna Lehman and Wyeth W. Wasserman and Clara van Karnebeek and Graham Sinclair and Hilary Vallance and William T. Gibson
DOI: 10.1101/mcs.a001156
10/2016

Reference interval of methylmalonic acid concentrations in dried blood spots of healthy, term newborns to facilitate neonatal screening of vitamin B12 deficiency
Clinical Biochemistry
Theresa H. Schroder and Andre Mattman and Graham Sinclair and Hilary D. Vallance and Yvonne Lamers
DOI: 10.1016/j.clinbiochem.2016.03.007
09/2016

Unravelling 5-oxoprolinuria (pyroglutamic aciduria) due to bi-allelic OPLAH mutations: 20 new mutations in 14 families.
Molecular genetics and metabolism
Sass JO and Gemperle-Britschgi C and Tarailo-Graovac M and Patel N and Walter M and Jordanova A and Alfadhel M and Baric I and Çoker M and Damli-Huber A and Faqeih EA and van Karnebeek CD
DOI: 10.1016/j.ymgme.2016.07.008
PubMed: 27477828
09/2016

A three-tier algorithm for guanidinoacetate methyltransferase (GAMT) deficiency newborn screening
Molecular Genetics and Metabolism
Graham B. Sinclair and Clara D.M. van Karnebeek and Manuel Ester and Frances Boyd and Tanya Nelson and Sylvia Stockler-Ipsiroglu and Hilary Vallance
DOI: 10.1016/j.ymgme.2016.05.002
07/2016

Integrated Multianalyte Second-Tier Testing for Newborn Screening for MSUD, IVA, and GAMT Deficiencies
Journal of Inborn Errors of Metabolism and Screening
Graham B. Sinclair and Manuel Ester and Gabriella Horvath and Clara D. van Karnebeek and Sylvia Stockler-Ipsirogu and Hilary Vallance
DOI: 10.1177/2326409816666296
07/2016

Exome Sequencing and the Management of Neurometabolic Disorders.
The New England journal of medicine
Tarailo-Graovac M and Shyr C and Ross CJ and Horvath GA and Salvarinova R and Ye XC and Zhang LH and Bhavsar AP and Lee JJ and Drögemöller BI and Abdelsayed M and Alfadhel M and van Karnebeek CD
DOI: 10.1056/nejmoa1515792
PubMed: 27276562
06/2016

Loss-of-function mutations in SCN4A cause severe foetal hypokinesia or 'classical' congenital myopathy.
Brain : a journal of neurology
Zaharieva IT and Thor MG and Oates EC and van Karnebeek C and Hendson G and Blom E and Witting N and Rasmussen M and Gabbett MT and Ravenscroft G and Sframeli M and Suetterlin K and Muntoni F
DOI: 10.1093/brain/awv352
PubMed: 26700687
03/2016

Exome sequencing and the management of neurometabolic disorders
New England Journal of Medicine
Tarailo-Graovac, M. and Shyr, C. and Ross, C.J. and Horvath, G.A. and Salvarinova, R. and Ye, X.C. and Zhang, L.-H. and Bhavsar, A.P. and Lee, J.J.Y. and Dr{\"o}gem{\"o}ller, B.I. and Abdelsayed, M. and Alfadhel, M. and Armstrong, L. and Baumgartner, M.R. and Burda, P. and Connolly, M.B. and Cameron, J. and Demos, M. and Dewan, T. and Dionne, J. and Evans, A.M. and Friedman, J.M. and Garber, I. and Lewis, S. and Ling, J. and Mandal, R. and Mattman, A. and McKinnon, M. and Michoulas, A. and Metzger, D. and Ogunbayo, O.A. and Rakic, B. and Rozmus, J. and Ruben, P. and Sayson, B. and Santra, S. and Schultz, K.R. and Selby, K. and Shekel, P. and Sirrs, S. and Skrypnyk, C. and Superti-Furga, A. and Turvey, S.E. and Van Allen, M.I. and Wishart, D. and Wu, J. and Wu, J. and Zafeiriou, D. and Kluijtmans, L. and Wevers, R.A. and Eydoux, P. and Lehman, A.M. and Vallance, H. and Stockler-Ipsiroglu, S. and Sinclair, G. and Wasserman, W.W. and Van Karnebeek, C.D.
DOI: 10.1056/NEJMoa1515792
2016

RMND1 deficiency associated with neonatal lactic acidosis, infantile onset renal failure, deafness and multiorgan involvement
European Journal of Human Genetics
Alexandre Janer and Clara DM van Karnebeek and Florin Sasarman and Hana Antonicka and Malak Al Ghamdi and Casper Shyr and Mary Dunbar and Sylvia Stockler-Ispiroglu and Colin J Ross and Hilary Vallance and Janis Dionne and Wyeth W Wasserman and Eric A Shoubridge
DOI: 10.1038/ejhg.2014.293
01/2015

Scoping review of patient- and family-oriented outcomes and measures for chronic pediatric disease
BMC Pediatrics
Khangura, S.D. and Karaceper, M.D. and Trakadis, Y. and Mitchell, J.J. and Chakraborty, P. and Tingley, K. and Coyle, D. and Grosse, S.D. and Kronick, J.B. and Laberge, A.-M. and Little, J. and Prasad, C. and Sikora, L. and Siriwardena, K. and Sparkes, R. and Speechley, K.N. and Stockler, S. and Wilson, B.J. and Wilson, K. and Zayed, R. and Potter, B.K. and Austin, V. and Feigenbaum, A. and Nagy, L. and Brownwell, M. and Brunel, C. and Casey, R. and Chan, A. and Jain, S. and Chapman, M. and Dyack, S. and Gillis, J. and Dodds, L. and Fell, D. and Geraghty, M. and Langley, E. and Giezen, A. and Ueda, K. and Vallance, H. and Greenberg, C. and Guttmann, A. and Hayeems, R. and Miller, F. and Khan, A. and MacKenzie, J. and Maranda, B. and Mhanni, A. and Mitchell, G. and Nakhla, M. and Pender, A. and Potter, M. and Turner, L. and van Karnebeek, C.
DOI: 10.1186/s12887-015-0323-x
2015

Methylmalonic aciduria: A common incidental finding in infants undergoing metabolic investigation
Clinical Biochemistry
Bojana Rakic and Graham Sinclair and Ramona Salvarinova and Hilary Vallance
DOI: 10.1016/j.clinbiochem.2014.07.063
10/2014

Rapid second-tier testing for newborn screening and therapeutic monitoring of maple syrup urine disease
Clinical Biochemistry
Graham Sinclair and Clara van Karnebeek and Ramona Salvarinova and Gloria Ho and Keiko Ueda and Barbara Cheng and Alette Giezen and Sylvia Stockler and Hilary Vallance
DOI: 10.1016/j.clinbiochem.2014.07.075
10/2014

Is it time to consider LC–MS/MS measurement of mucopolysaccharides as the first line screening test for Sanfilippo disease?
Clinical Biochemistry
Hilary Vallance and Graham Sinclair and Ramona Salvarinova and Michelle Demos and Tim Wood and Pamela Lavoie and Christiane Auray-Blais
DOI: 10.1016/j.clinbiochem.2014.07.051
10/2014

Single point mutation in Rabenosyn-5 in a female with intractable seizures and evidence of defective endocytotic trafficking
Orphanet Journal of Rare Diseases
Sylvia Stockler and Silvia Corvera and David Lambright and Kevin Fogarty and Ekaterina Nosova and Deborah Leonard and Robert Steinfeld and Cameron Ackerley and Casper Shyr and Nicolas Au and Kathrin Selby and Margot van Allen and Hilary Vallance and Ron Wevers and David Watkins and David Rosenblatt and Colin J Ross and Elizabeth Conibear and Wyeth Wasserman and Clara van Karnebeek
DOI: 10.1186/s13023-014-0141-5
09/2014

Limitation of TREC-based newborn screening for ZAP70 Severe Combined Immunodeficiency
Clinical Immunology
Serge Grazioli and Mary Bennett and Kyla J. Hildebrand and Hilary Vallance and Stuart E. Turvey and Anne K. Junker
DOI: 10.1016/j.clim.2014.04.015
07/2014

Mitochondrial Carbonic Anhydrase VA Deficiency Resulting from CA5A Alterations Presents with Hyperammonemia in Early Childhood
The American Journal of Human Genetics
Clara D. van Karnebeek and William S. Sly and Colin J. Ross and Ramona Salvarinova and Joy Yaplito-Lee and Saikat Santra and Casper Shyr and Gabriella A. Horvath and Patrice Eydoux and Anna M. Lehman and Virginie Bernard and Theresa Newlove and Henry Ukpeh and Anupam Chakrapani and Mary Anne Preece and Sarah Ball and James Pitt and Hilary D. Vallance and Marion Coulter-Mackie and Hien Nguyen and Lin-Hua Zhang and Amit P. Bhavsar and Graham Sinclair and Abdul Waheed and Wyeth W. Wasserman and Sylvia Stockler-Ipsiroglu
DOI: 10.1016/j.ajhg.2014.01.006
03/2014

Prediction of obstetrical risk using maternal serum markers and clinical risk factors.
Prenatal diagnosis
Metcalfe A and Langlois S and Macfarlane J and Vallance H and Joseph KS
DOI: 10.1002/pd.4281
PubMed: 24226970
02/2014

Performance of serum and dried blood spot acylcarnitine profiles for detection of fatty acid ß-oxidation disorders in adult patients with rhabdomyolysis
Journal of Inherited Metabolic Disease
Al-Thihli, K. and Sinclair, G. and Sirrs, S. and Mezei, M. and Nelson, J. and Vallance, H.
DOI: 10.1007/s10545-012-9578-7
2014

Long-term outcomes of blood phenylalanine concentrations in children with classical phenylketonuria
Molecular Genetics and Metabolism
Carol Hartnett and Ramona Salvarinova-Zivkovic and Eva Yap-Todos and Barbara Cheng and Alette Giezen and Gabriella Horvath and Yolanda Lillquist and Hilary Vallance and Sylvia Stockler-Ipsiroglu
DOI: 10.1016/j.ymgme.2013.01.007
04/2013

Three years experience with dried blood spot a-glucosidase screening for Pompe disease in British Columbia, Canada
BMC Musculoskeletal Disorders
Gabriella Horvath and Sandra Sirrs and Sylvia Stockler and Ramona Salvarinova-Zivkovic and Hilary Vallance and Paula Waters
DOI: 10.1186/1471-2474-14-s2-p2
2013

Carnitine Palmitoyltransferase I and Sudden Unexpected Infant Death in British Columbia First Nations
PEDIATRICS
G. B. Sinclair and S. Collins and O. Popescu and D. McFadden and L. Arbour and H. D. Vallance
DOI: 10.1542/peds.2011-2924
10/2012

Levator Palpebrae Biopsy and Diagnosis of Progressive External Ophthalmoplegia
The Canadian Journal of Neurological Sciences
Gerald Pfeffer and Paula J. Waters and John Maguire and Hilary D. Vallance and V. A. Wong and Michelle M. Mezei
DOI: 10.1017/s0317167100014062
07/2012

A variant of unknown significance in the GLA gene causing diagnostic uncertainty in a young female with isolated hypertrophic cardiomyopathy.
Gene
Al-Thihli K and Ebrahim H and Hughes DA and Patel M and Tipple M and Salvarinova R and Gardiner J and Vallance H and Waters PJ
DOI: 10.1016/j.gene.2012.01.056
PubMed: 22336178
04/2012

Levator palpebrae biopsy and diagnosis of progressive external ophthalmoplegia
Canadian Journal of Neurological Sciences
Pfeffer, G. and Waters, P.J. and Maguire, J. and Vallance, H.D. and Wong, V.A. and Mezei, M.M.
DOI: 10.1017/S0317167100014062
2012

Late-onset nonketotic hyperglycinemia caused by a novel homozygous missense mutation in the GLDC gene
Molecular Genetics and Metabolism
Catherine Brunel-Guitton and Brett Casey and Marion Coulter-Mackie and Hilary Vallance and Deborah Hewes and Sylvia Stockler-Ipsiroglu and Saadet Mercimek-Mahmutoglu
DOI: 10.1016/j.ymgme.2011.02.009
06/2011

Diagnosis and Management of patients with mitochondrial disease
BC Medical Journal
05/2011

Infantile cardioencephalopathy due to a COX15 gene defect: Report and review
American Journal of Medical Genetics Part A
Majid Alfadhel and Yolanda P. Lillquist and Paula J. Waters and Graham Sinclair and Eduard Struys and Deborah McFadden and Glenda Hendson and Lauren Hyams and John Shoffner and Hilary D. Vallance
DOI: 10.1002/ajmg.a.33881
03/2011

Clinical validation of cutoff target ranges in newborn screening of metabolic disorders by tandem mass spectrometry: a worldwide collaborative project.
Genetics in medicine : official journal of the American College of Medical Genetics
McHugh D and Cameron CA and Abdenur JE and Abdulrahman M and Adair O and Al Nuaimi SA and Åhlman H and Allen JJ and Antonozzi I and Archer S and Au S and Auray-Blais C and Baker M and Zakowicz WM
DOI: 10.1097/gim.0b013e31820d5e67
PubMed: 21325949
03/2011

Diagnosis and management of patients with mitochondrial disease
British Columbia Medical Journal
Mattman, A. and O{'}Riley, M. and Waters, P.J. and Sinclair, G. and Mezei, M.M. and Clark, L. and Hendson, G. and Vallance, H. and Sirrs, S.
2011

Clinical validation of cutoff target ranges in newborn screening of metabolic disorders by tandem mass spectrometry: A worldwide collaborative project
Genetics in Medicine
McHugh, D.M.S. and Cameron, C.A. and Abdenur, J.E. and Abdulrahman, M. and Adair, O. and Al Nuaimi, S.A. and ?hlman, H. and Allen, J.J. and Antonozzi, I. and Archer, S. and Au, S. and Auray-Blais, C. and Baker, M. and Bamforth, F. and Beckmann, K. and Pino, G.B. and Berberich, S.L. and Binard, R. and Boemer, F. and Bonham, J. and Breen, N.N. and Bryant, S.C. and Caggana, M. and Caldwell, S.G. and Camilot, M. and Campbell, C. and Carducci, C. and Cariappa, R. and Carlisle, C. and Caruso, U. and Cassanello, M. and Castilla, A.M. and Ramos, D.E.C. and Chakraborty, P. and Chandrasekar, R. and Ramos, A.C. and Cheillan, D. and Chien, Y.-H. and Childs, T.A. and Chrastina, P. and Sica, Y.C. and Cocho De Juan, J.A. and Colandre, M.E. and Espinoza, V.C. and Corso, G. and Currier, R. and Cyr, D. and Czuczy, N. and D{'}Apolito, O. and Davis, T. and De Sain-Van Der Velden, M.G. and Pecellin, C.D. and Di Gangi, I.M. and Di Stefano, C.M. and Dotsikas, Y. and Downing, M. and Downs, S.M. and Dy, B. and Dymerski, M. and Rueda, I. and Elvers, B. and Eaton, R. and Eckerd, B.M. and El Mougy, F. and Eroh, S. and Espada, M. and Evans, C. and Fawbush, S. and Fijolek, K.F. and Fisher, L. and Franzson, L. and Frazier, D.M. and Garcia, L.R.C. and Bermejo, M.S.G.-V. and Gavrilov, D. and Gerace, R. and Giordano, G. and Irazabal, Y.G. and Greed, L.C. and Grier, R. and Grycki, E. and Gu, X. and Gulamali-Majid, F. and Hagar, A.F. and Han, L. and Hannon, W.H. and Haslip, C. and Hassan, F.A. and He, M. and Hietala, A. and Himstedt, L. and Hoffman, G.L. and Hoffman, W. and Hoggatt, P. and Hopkins, P.V. and Hougaard, D.M. and Hughes, K. and Hunt, P.R. and Hwu, W.-L. and Hynes, J. and Ibarra-Gonz{\'a}lez, I. and Ingham, C.A. and Ivanova, M. and Jacox, W.B. and John, C. and Johnson, J.P. and J{\'o}nsson, J.J. and Karg, E. and Kasper, D. and Klopper, B. and Katakouzinos, D. and Khneisser, I. and Knoll, D. and Kobayashi, H. and Koneski, R. and Ko?ich, V. and Kouapei, R. and Kohlmueller, D. and Kremensky, I. and La Marca, G. and Lavochkin, M. and Lee, S.-Y. and Lehotay, D.C. and Lemes, A. and Lepage, J. and Lesko, B. and Lewis, B. and Lim, C. and Linard, S. and Lindner, M. and Lloyd-Puryear, M.A. and Lorey, F. and Loukas, Y.L. and Luedtke, J. and Maffitt, N. and Magee, J.F. and Manning, A. and Manos, S. and Marie, S. and Hadachi, S.M. and Marquardt, G. and Martin, S.J. and Matern, D. and Gibson, S.K.M. and Mayne, P. and McCallister, T.D. and McCann, M. and McClure, J. and McGill, J.J. and McKeever, C.D. and McNeilly, B. and Morrissey, M.A. and Moutsatsou, P. and Mulcahy, E.A. and Nikoloudis, D. and Norgaard-Pedersen, B. and Oglesbee, D. and Oltarzewski, M. and Ombrone, D. and Ojodu, J. and Papakonstantinou, V. and Reoyo, S.P. and Park, H.-D. and Pasquali, M. and Pasquini, E. and Patel, P. and Pass, K.A. and Peterson, C. and Pettersen, R.D. and Pitt, J.J. and Poh, S. and Pollak, A. and Porter, C. and Poston, P.A. and Price, R.W. and Queijo, C. and Quesada, J. and Randell, E. and Ranieri, E. and Raymond, K. and Reddic, J.E. and Reuben, A. and Ricciardi, C. and Rinaldo, P. and Rivera, J.D. and Roberts, A. and Rocha, H. and Roche, G. and Greenberg, C.R. and Mellado, J.M.E. and Juan-Fita, M.J. and Ruiz, C. and Ruoppolo, M. and Rutledge, S.L. and Ryu, E. and Saban, C. and Sahai, I. and Garc{\'i}a-Blanco, M.I.S. and Santiago-Borrero, P. and Schenone, A. and Schoos, R. and Schweitzer, B. and Scott, P. and Seashore, M.R. and Seeterlin, M.A. and Sesser, D.E. and Sevier, D.W. and Shone, S.M. and Sinclair, G. and Skrinska, V.A. and Stanley, E.L. and Strovel, E.T. and Jones, A.L.S. and Sunny, S. and Takats, Z. and Tanyalcin, T. and Teofoli, F. and Thompson, J.R. and Tomashitis, K. and Domingos, M.T. and Torres, J. and Torres, R. and Tortorelli, S. and Turi, S. and Turner, K. and Tzanakos, N. and Valiente, A.G. and Vallance, H. and Vela-Amieva, M. and Vilarinho, L. and Von D{\"o}beln, U. and Vincent, M.-F. and Vorster, B.C. and Watson, M.S. and Webster, D. and Weiss, S. and Wilcken, B. and Wiley, V. and Williams, S.K. and Willis, S.A. and Woontner, M. and Wright, K. and Yahyaoui, R. and Yamaguchi, S. and Yssel, M. and Zakowicz, W.M.
DOI: 10.1097/GIM.0b013e31820d5e67
2011

Carnitine palmitoyltransferase 1A (CPT1A) P479L prevalence in live newborns in Yukon, Northwest Territories, and Nunavut
Molecular Genetics and Metabolism
Sorcha A. Collins and Graham Sinclair and Sarah McIntosh and Fiona Bamforth and Robert Thompson and Isaac Sobol and Geraldine Osborne and Andre Corriveau and Maria Santos and Brendan Hanley and Cheryl R. Greenberg and Hilary Vallance and Laura Arbour
DOI: 10.1016/j.ymgme.2010.07.013
10/2010

IDH2 mutations in patients with D-2-hydroxyglutaric aciduria.
Science (New York, N.Y.)
Kranendijk M and Struys EA and van Schaftingen E and Gibson KM and Kanhai WA and van der Knaap MS and Amiel J and Buist NR and Das AM and de Klerk JB and Feigenbaum AS and Grange DK and Salomons GS
DOI: 10.1126/science.1192632
PubMed: 20847235
10/2010

The paradox of the carnitine palmitoyltransferase type Ia P479L variant in Canadian Aboriginal populations
Molecular Genetics and Metabolism
Cheryl R. Greenberg and Louise A. Dilling and G. Robert Thompson and Lorne E. Seargeant and James C. Haworth and Susan Phillips and Alicia Chan and Hilary D. Vallance and Paula J. Waters and Graham Sinclair and Yolanda Lillquist and Ronald J.A. Wanders and Simon E. Olpin
DOI: 10.1016/j.ymgme.2008.12.018
04/2009

In response to ‘Newborn screening in North America’ (Therrell and Adams (2007) J Inherit Metab Dis 30:447–465)
Journal of Inherited Metabolic Disease
H. Vallance and S. Sirrs and F. Bamforth and S. Stockler-Ipsiroglu
DOI: 10.1007/s10545-008-0846-5
10/2008

Delays in diagnosing cystic fibrosis: can we find ways to diagnose it earlier?
Canadian family physician Medecin de famille canadien
Steinraths M and Vallance HD and Davidson AG
PubMed: 18556497
06/2008

Mutation-based diagnostic testing for primary hyperoxaluria type 1: Survey of results
Clinical Biochemistry
Marion B. Coulter-Mackie and Qun Lian and Derek A. Applegarth and Jennifer Toone and Paula J. Waters and Hilary Vallance
DOI: 10.1016/j.clinbiochem.2008.01.018
05/2008

Clinical and molecular features of mitochondrial DNA depletion due to mutations in deoxyguanosine kinase.
Human mutation
Dimmock DP and Zhang Q and Dionisi-Vici C and Carrozzo R and Shieh J and Tang LY and Truong C and Schmitt E and Sifry-Platt M and Lucioli S and Santorelli FM and Ficicioglu CH and Wong LJ
DOI: 10.1002/humu.9519
PubMed: 18205204
02/2008

Screening for Fabry disease in patients with chronic kidney disease: limitations of plasma alpha-galactosidase assay as a screening test.
Clinical journal of the American Society of Nephrology : CJASN
Andrade J and Waters PJ and Singh RS and Levin A and Toh BC and Vallance HD and Sirrs S
DOI: 10.2215/cjn.02490607
PubMed: 18003767
01/2008

Newborn screening for MCAD deficiency: experience of the first three years in British Columbia, Canada.
Canadian journal of public health = Revue canadienne de sante publique
Horvath GA and Davidson AG and Stockler-Ipsiroglu SG and Lillquist YP and Waters PJ and Olpin S and Andresen BS and Palaty J and Nelson J and Vallance H
PubMed: 18767270
2008

Newborn screening for MCAD deficiency: Experience of the first three years in British Columbia, Canada
Canadian Journal of Public Health
Horvath, G.A. and Davidson, A.G.F. and Stockler-Ipsiroglu, S.G. and Lillquist, Y.P. and Waters, P.J. and Olpin, S. and Andresen, B.S. and Palaty, J. and Nelson, J. and Vallance, H.
DOI: 10.1007/bf03403754
2008

Screening for fabry disease in patients with chronic kidney disease: Limitations of plasma a-galactosidase assay as a screening test
Clinical Journal of the American Society of Nephrology
Andrade, J. and Waters, P.J. and Singh, R.S. and Levin, A. and Toh, B.-C. and Vallance, H.D. and Sirrs, S.
DOI: 10.2215/CJN.02490607
2008

Delays in diagnosing cystic fibrosis: Can we find ways to diagnose it earlier?
Canadian Family Physician
Steinraths, M. and Vallance, H.D. and Davidson, A.G.F.
2008

Newborn screening by tandem mass spectrometry: ethical and social issues.
Canadian journal of public health = Revue canadienne de sante publique
Avard D and Vallance H and Greenberg C and Potter B
PubMed: 17896737
2007

Newborn screening by Tandem Mass Spectrometry: Ethical and social issues
Canadian Journal of Public Health
Avard, D. and Vallance, H. and Greenberg, C. and Potter, B.
DOI: 10.1007/bf03405404
2007

Variability in the storage and use of newborn dried bloodspots in Canada: is it time for national standards?
Genomics, society, and policy
Avard D and Vallance H and Greenberg C and Laberge C and Kharaboyan L and Plant M
12/2006

Common HEXB polymorphisms reduce serum HexA and HexB enzymatic activities, potentially masking Tay-Sachs disease carrier identification.
Molecular genetics and metabolism
Vallance H and Morris TJ and Coulter-Mackie M and Lim-Steele J and Kaback M
DOI: 10.1016/j.ymgme.2005.10.012
PubMed: 16352452
02/2006

A hemizygous SCO2 mutation in an early onset rapidly progressive, fatal cardiomyopathy.
Molecular genetics and metabolism
Leary SC and Mattman A and Wai T and Koehn DC and Clarke LA and Chan S and Lomax B and Eydoux P and Vallance HD and Shoubridge EA
DOI: 10.1016/j.ymgme.2006.04.016
PubMed: 16765077
2006

Neonatal hyperphenylalaninemia, perinatal hemochromatosis, and renal tubulopathy: a unique patient or a novel metabolic disorder?
Molecular genetics and metabolism
Waters PJ and Khashu M and Lillquist Y and Senger C and Mattman A and Demos M and Setchell K and Rupar A and Scott P and Blau N and Vallance HD
DOI: 10.1016/j.ymgme.2005.07.032
PubMed: 16182582
12/2005

6-Pyruvoyl-tetrahydropterin synthase deficiency with mild hyperphenylalaninemia
Annals of Neurology
Michelle K. Demos and Paula J. Waters and Hilary D. Vallance and Yolanda Lillquist and Nawal Makhseed and Keith Hyland and Nenad Blau and Mary B. Connolly
DOI: 10.1002/ana.20532
06/2005

The Brugada ECG pattern in a neonate.
Journal of cardiovascular electrophysiology
Sanatani S and Mahkseed N and Vallance H and Brugada R
DOI: 10.1046/j.1540-8167.2005.40607.x
PubMed: 15817096
03/2005

Laboratory Testing of Infants and Children
Pediatrics
Lockitch, G. and Mock, T. and Thomas, E. and Vallance, H. and Wadsworth, L.
DOI: 10.1016/B978-0-323-01199-0.50276-0
2005

Biochemical Approach to the Investigation of Pediatric Mitochondrial Disease
Pediatric and Developmental Pathology
Hilary Vallance
DOI: 10.1007/s10024-004-5053-2
11/2004

EXPANSION OF THE 22q13 DELETION PHENOTYPE IN FOUR PATIENTS WITH AUTISM SPECTRUM DISORDER.
Journal of Investigative Medicine
E. Lopez-Rangel and H. Vallance and J. Palaty and E. Mickelson and M. Hrynchak and E. Separovic and P. M. MacLeod and L. Arbour and L. Clarke and M. E.S. Lewis
DOI: 10.1097/00042871-200401001-00125
01/2004

Carnitine transporter defect due to a novel mutation in the SLC22A5 gene presenting with peripheral neuropathy.
Journal of inherited metabolic disease
Makhseed N and Vallance HD and Potter M and Waters PJ and Wong LT and Lillquist Y and Pasquali M and Amat di San Filippo C and Longo N
DOI: 10.1023/b:boli.0000045837.23328.f4
PubMed: 15617188
2004

Pseudo-lysosomal storage disease caused by EMLA cream
Journal of Inherited Metabolic Disease
Vallance, H. and Chaba, T. and Clarke, L. and Taylor, G.
DOI: 10.1023/B:BOLI.0000037352.98317.5a
2004

Carnitine transporter defect due to a novel mutation in the SLC22A5 gene presenting with peripheral neuropathy
Journal of Inherited Metabolic Disease
Makhseed, N. and Vallance, H.D. and Potter, M. and Waters, P.J. and Wong, L.T.K. and Lillquist, Y. and Pasquali, M. and Amat di San Filippo, C. and Longo, N.
DOI: 10.1023/B:BOLI.0000045837.23328.f4
2004

A case of sporadic infantile histiocytoid cardiomyopathy caused by the A8344G (MERRF) mitochondrial DNA mutation
Pediatric Cardiology
Vallance, H.D. and Jeven, G. and Wallace, D.C. and Brown, M.D.
DOI: 10.1007/s00246-003-0446-y
2004

A genomic approach to mutation analysis of holocarboxylase synthetase gene in three Chinese patients with late-onset holocarboxylase synthetase deficiency
Clinical Biochemistry
Nelson L.S. Tang and Joannie Hui and Collin K.K. Yong and Lawrence T.K. Wong and Derek A. Applegarth and Hilary D. Vallance and L.K. Law and Simon L.M. Fung and Tony W.L. Mak and Y.M. Sung and K.L. Cheung and T.F. Fok
DOI: 10.1016/s0009-9120(02)00432-0
03/2003

Carrier Testing for Autosomal- Recessive Disorders
Critical Reviews in Clinical Laboratory Sciences
Hilary Vallance and Jason Ford
DOI: 10.1080/10408360390247832
01/2003

Mutations in ENPP1 are associated with 'idiopathic' infantile arterial calcification
Nature Genetics
Rutsch, F. and Ruf, N. and Vaingankar, S. and Toliat, M.R. and Suk, A. and H{\"o}hne, W. and Schauer, G. and Lehmann, M. and Roscioli, T. and Schnabel, D. and Epplen, J.T. and Knisely, A. and Superti-Furga, A. and McGill, J. and Filippone, M. and Sinaiko, A.R. and Vallance, H. and Hinrichs, B. and Smith, W. and Ferre, M. and Terkeltaub, R. and N{\"u}rnberg, P.
DOI: 10.1038/ng1221
2003

A genomic approach to mutation analysis of holocarboxylase synthetase gene in three Chinese patients with late-onset holocarboxylase synthetase deficiency
Clinical Biochemistry
Tang, N.L.S. and Hui, J. and Yong, C.K.K. and Wong, L.T.K. and Applegarth, D.A. and Vallance, H.D. and Law, L.K. and Fung, S.L.M. and Mak, T.W.L. and Sung, Y.M. and Cheung, K.L. and Fok, T.F.
DOI: 10.1016/S0009-9120(02)00432-0
2003

Mucopolysaccharidosis Type VII (Sly Syndrome) Presenting as Neonatal Cholestasis With Hepatosplenomegaly
Journal of Pediatric Gastroenterology and Nutrition
Peter M. Gillett and Richard A. Schreiber and Gareth P. Jevon and David M. Israel and Tom Warshawski and Hilary Vallance and Lorne A. Clarke
DOI: 10.1097/00005176-200108000-00025
08/2001

Novel point mutation (W184R) in neonatal type 2 Gaucher disease.
Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology Society
Choy FY and Wong K and Vallance HD and Baldwin V
DOI: 10.1007/s100240050023
PubMed: 10679038
2000

Novel point mutation (W184R) in neonatal type 2 Gaucher disease
Pediatric and Developmental Pathology
Choy, F.Y.M. and Wong, K. and Vallance, H.D. and Baldwin, V.
DOI: 10.1007/s100249910018
2000

The Liver Biopsy and the Jaundiced Infant
Pathology Case Reviews
Avrum J. Ostry and Hilary D. Vallance and James E. Dimmick and Garcth P. levon
DOI: 10.1097/00132583-199905000-00005
05/1999

Diagnosis of inborn errors of metabolism using 1H NMR spectroscopic analysis of urine.
Journal of Inherited Metabolic Disease
Bamforth FJ and Dorian V and Vallance H and Wishart DS
DOI: 10.1023/a:1005531432766
PubMed: 10384391
05/1999

D-2-Hydroxyglutaric aciduria: biochemical marker or clinical disease entity?
Annals of neurology
van der Knaap MS and Jakobs C and Hoffmann GF and Nyhan WL and Renier WO and Smeitink JA and Catsman-Berrevoets CE and Hjalmarson O and Vallance H and Sugita K and Bowe CM and Chalmers RA
DOI: 10.1002/1531-8249(199901)45:13.0.co;2-n
PubMed: 9894884
01/1999

Identification of 6 new mutations in the iduronate sulfatase gene
Human Mutation
Hilary D. Vallance and Lynn Bernard and Michael Rashed and Doris Chiu and Grace Le and Jenny Toone and Derek A. Applegarth and Marion Coulter-Mackie
DOI: 10.1002/(sici)1098-1004(1999)13:43.0.co;2-3
1999

D-2-hydroxyglutaric aciduria: Biochemical marker or clinical disease entity?
Annals of Neurology
Van Der Knaap, M.S. and Jakobs, C. and Hoffmann, G.F. and Nyhan, W.L. and Renier, W.O. and Smeitink, J.A.M. and Catsman-Berrevoets, C.E. and Hjalmarson, O. and Vallance, H. and Sugita, K. and Bowe, C.M. and Herrin, J.T. and Craigen, W.J. and Buist, N.R.M. and Brookfield, D.S.K. and Chalmers, R.A.
DOI: 10.1002/1531-8249(199901)45:13.0.CO;2-N
1999

Diagnosis of inborn errors of metabolism using 1H NMR spectroscopic analysis of urine
Journal of Inherited Metabolic Disease
Bamforth, F.J. and Dorian, V. and Vallance, H. and Wishart, D.S.
DOI: 10.1023/A:1005531432766
1999

Identification of 6 new mutations in the iduronate sulfatase gene. Mutation in brief no. 233. Online.
Human mutation
Vallance, H.D. and Bernard, L. and Rashed, M. and Chiu, D. and Le, G. and Toone, J. and Applegarth, D.A. and Coulter-Mackie, M.
DOI: 10.1002/(SICI)1098-1004(1999)13:43.0.CO;2-3
1999

Early amniocentesis for biochemical genetic prenatal diagnosis
The Lancet
JR Toone and DA Applegarth and HD Vallance and RD Wilson
DOI: 10.1016/s0140-6736(05)79157-1
04/1998

Early amniocentesis for biochemical genetic prenatal diagnosis [2]
Lancet
Toone, J.R. and Applegarth, D.A. and Vallance, H.D. and Wilson, R.D.
DOI: 10.1016/S0140-6736(05)79157-1
1998

DNA-based diagnosis of arylsulfatase A deficiencies as a supplement to enzyme assay: A case in point
Clinical Biochemistry
Marion B. Coulter-Mackie and Derek A. Applegarth and Jennifer Toone and Hilary Vallance
DOI: 10.1016/s0009-9120(96)00124-5
02/1997

DNA-based diagnosis of arylsulfatase a deficiencies as a supplement to enzyme assay: A case in point
Clinical Biochemistry
Coulter-Mackie, M.B. and Applegarth, D.A. and Toone, J. and Vallance, H.
DOI: 10.1016/S0009-9120(96)00124-5
1997

Are patients with homocystinuria being missed?
European Journal of Pediatrics
Derek A. Applegarth and Hilary D. Vallance and David Seccombe
DOI: 10.1007/bf02074844
07/1995

Are patients with homocystinuria being missed?
European Journal of Pediatrics
Applegarth, D.A. and Vallance, H.D. and Seccombe, D.
DOI: 10.1007/BF02074844
1995

An improved method for quantification of very long chain fatty acids in plasma
Clinical Biochemistry
Hilary Vallance and Applegarth Derek
DOI: 10.1016/0009-9120(94)90053-1
06/1994

Measurement of pyruvate dehydrogenase complex (PDHC) in interleukin-2 (IL-2) stimulated lymphocytes.
Journal of inherited metabolic disease
Vallance HD and Toone JR and Applegarth DA
DOI: 10.1007/bf00711604
PubMed: 7837773
1994

Measurement of pyruvate dehydrogenase complex (PDHC) in interleukin-2 (IL-2) stimulated lymphocytes
Journal of Inherited Metabolic Disease
Vallance, H.D. and Toone, J.R. and Applegarth, D.A.
DOI: 10.1007/BF00711604
1994

Oral zinc therapy in the treatment of a-mannosidosis
American Journal of Medical Genetics
Lawrence T. K. Wong and Hilary Vallance and Angela Savage and A. G. F. Davidson and Derek Applegarth
DOI: 10.1002/ajmg.1320460413
06/1993

Rapid, semi-quantitative assay of C-reactive protein evaluated
Clinical Chemistry
Vallance, H. and Lockitch, G.
DOI: 10.1093/clinchem/37.11.1981
1991

Research

Current Project
Treatable Intellectual Disability Endeavour (TIDE-BC)
Development of an LC/MS/MS method for amino acid profiling.

Current Project
CPTI variant communications
Development of public health messaging and information for health care providers.

Current Project
Natural history of the CPT I variant in BC First Nations
An anonymized study to evaluate health parameters available in public health databases (PopBC) to expand our knowledge of the natural history the CPT I variant.

Grants

Collaborative Area of Innovation Title

TIDE BC Treatable Intellectual Disability Endeavour in B.C. (TIDE-BC) ~ $2.25M. PI

Stockler S Co-Investigators

Dr. Jean-Paul Collet, Dr. Clara van Karnebeek, Dr. Carlo Marra, Dr. Hilary Vallance and Dr. Wyeth Wasserman. (2011-2014).

Children's and Women's Health Center

Telethon fund Title

Defining the clinical risks associated with CPT1a p.P479L homozygosity in children from BC First Nations ~ $22,000. Coinvestigators

Arbour L. (2011-2013)

CIHR Emerging Team Grant Title

Emerging team in rare diseases

Achieving the 'triple aim' for inborn errors of metabolism ~ $1,490,492. (2012-2017).

Honours & Awards

Dr. Parminder Singh Award, British Columbia Pediatric Society — 2011