• Vallance, Hilary D.


    Investigator, BC Children's Hospital
    Director, Provincial Newborn Screening Program, BC Children's Hospital
    Director, Biochemical Genetics Laboratory, BC Children's Hospital and BC Women's Hospital & Health Centre
    Clinical Professor, Department of Pathology, University of British Columbia

    Degrees / Designations
    MD, FRCPC, FCCMG(Biochemical Genetics)
    Primary Area of Research
    Childhood Diseases
    Secondary Area(s) of Research
    Lab Phone
    Mailing Address

    Biochemical Genetics Laboratory
    BC Children's Hospital and BC Women's Hospital & Health Centre
    Room 2F16
    4500 Oak Street
    Vancouver, BC V6H 3N1

    Affiliate Websites
    Research Areas

    Dr. Vallance is the director of the BC Newborn Screening Program and the Biochemical Genetics lab within the Department of Pathology, BC Children’s hospital.

    The Biochemical Genetics laboratory provides specialized testing for children and adults suspected of inborn errors of metabolism; a group of genetic disorders that can be diagnosed with biochemical, enzymatic and molecular (DNA) tests. Much of the research in this laboratory is driven by case investigation.

    The Newborn Screening Program tests virtually all newborns in British Columbia and the Yukon for treatable metabolic disorders. With early detection and treatment, these children have improved clinical outcomes. More information regarding newborn screening is available on the website www.newbornscreeningbc.ca.

    Primary Research Area: Prevalence and natural history of a common variant in the Carnitine Palmitoyl transferase Ia gene in BC and Northern aboriginal populations.

    Teaching and Learning: Program Director, UBC Biochemical Genetics Post-graduate fellowship program. This is an accredited program through the Canadian College of Medical Geneticists.


    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.

    Current Projects

    1) 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.

    2) CPTI variant communications
    Development of public health messaging and information for health care providers.

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

    4) CIHR Emerging Team in Rare diseases
    Development and alignment of diagnostic algorithms for treatable inborn errors of metabolism.

    Selected Publications

    Al-Thihli K, Ebrahim H, Hughes DA, Patel M, Tipple M, Salvarinova R, Gardiner J, Vallance H, Waters PJ. A variant of unknown significance in the GLA gene causing diagnostic uncertainty in a young female with isolated hypertrophic cardiomyopathy. Gene. 2012 Apr 15;497(2):320. PMID: 22336178

    Alfadhel M, Lillquist YP, Waters PJ, Sinclair G, Struys E, McFadden D, Hendson G, Hyams L, Shoffner J, Vallance HD. Infantile cardioencephalopathy due to a COX15 gene defect: report and review. Am J Med Genet A. 2011 Apr;155A(4):840-4. PMID: 21412973

    Brunel-Guitton C, Casey B, Coulter-Mackie M, Vallance H, Hewes D, Stockler-Ipsiroglu S, Mercimek-Mahmutoglu S. Late -onset nonketotic hyperglycinemia caused by a novel homozygous missense mutation in the GLDC gene. Mol Genet Metab. 2011 Jun;103(2):193-6. PMID: 21411353

    McHugh DM, Cameron CA, Abdenur JE, Abdulrahman M, Adair O, Al Nuaimi SA, … Vallance H, Vela-Amieva M, Vilarinho L, von Döbeln U, Vincent MF, Vorster BC, Watson MS, Webster D, Weiss S, Wilcken B, Wiley V, Williams SK, Willis SA, Woontner M, Wright K, Yahyaoui R, Yamaguchi S, Yssel M, Zakowicz WM. Clinical validation of cutoff target ranges in newborn screening of metabolic disorders by tandem mass spectrometry: a worldwide collaborative project. Genet Med. 2011 Mar;13(3):230-54. PMID: 21325949

    Collins SA, Sinclair G, McIntosh S, Bamforth F, Thompson R, Sobol I, Osborne G, Corriveau A, Santos M, Hanley B, Greenberg CR, Vallance H, Arbour L. Carnitine palmitoyltransferase 1A (CPT1A) P479L prevalence in live newborns in Yukon, Northwest Territories, and Nunavut. Mol Genet Metab 2010 Oct-Nov 101(2-3):200-4. PMID: 20696606

    Kranendijk M, Struys EA, van Schaftingen E, Gibson KM, Kanhai WA, van der Knaap MS, Amiel J, Buist NR, Das AM, de Klerk JB, Feigenbaum AS, Grange DK, Hofstede FC, Holme E, Kirk EP, Korman SH, Morava E, Morris A, Smeitink J, Sukhai RN, Vallance H, Jakobs C, Salomons GS. IDH2 mutations in patients with D-2-hydroxyglutaric aciduria. Science 2010 Oct 15:330(6002):336. PMID: 20847235

    Greenberg CR, Dilling LA, Thompson GR, Seargeant LE, Haworth JC, Phillips S, Chan A, Vallance HD, Waters PJ, Sinclair G, Lillquist Y, Wanders RJ, Olpin SE. The Paradox of the Carnitine PalmitoylTransferase type Ia P479L variant in Canadian Aboriginal populations. Mol Genet Metab. 2009 Apr;96(4):201-7. PMID: 19217814

    Horvath GA, Davidson AG, Stockler-Ipsiroglu SG, Lillquist YP, Waters PJ, Olpin S, Andresen BS, Palaty J, Nelson J, Vallance H. Newborn screening for MCAD deficiency: experience of the first three years in British Columbia, Canada.Can J Public Health. 2008 Jul-Aug;99(4):276-80. PMID: 18767270

    Dimmock DP, Zhang Q, Dionisi-Vici C, Carrozzo R, Shieh J, Truong C, Schmitt E, Sifry-Platt M, Luioli S, Santorelli FM, Ficicioglu CH, Rodriguez M, Wierenga K, Enns GM, Arch EM, Longo N, Lipson MH, Vallance HD, Craigen WJ, Scaglia F, Wong L-J. Clinical and Molecular Features of Mitochondira DNA depletion due to Mutations in Deoxyguanosine Kinase Hum Mutat 2008 Feb;29(2):330-1. PMID: 18205204

    Coulter-Mackie M, Lian Q, Applegarth DA, Toone J, Waters PJ, Vallance HD. Mutation-based diagnostic testing for Primary Hyperoxaluria type I: survey of results. Clin Biochem 2008;41:598-602. PMID: 18282470

    Steinraths M, Vallance HD, Davidson AGF. Clinical Presentation of Cystic fibrosis: 2 year analysis of new diagnosis in Britsh Columbia Can Fam Phys 2008 Jun;54(6):877-83. PMID: 18556497

    Andrade J, Waters PJ, Singh S, Levin A, Toh B, Vallance HD, Sirrs S. Screening for Fabry Disease in Patients with Chronic Kidney Disease: Limitations of Plasma -Galactosidase Assay as a Screening Test. Clin J Am Soc Nephrol 2008 3: 139-145. PMID: 18003767

    Vallance H, Sirrs S, Bamforth F, Stockler-Ipsiroglu S. In response to “Newborn screening in North America” (Therrell and Adams (2007) J Inherit Metab Dis. 2008 Dec;31(6):777-8. PMID: 18855116

    Avard D, Vallance HD, Greenberg C, Potter B. Newborn screening by tandem mass spectrometry: Ethical and Social issues. Can J Public Health. 2007 Jul-Aug;98(4):284-6. PMID: 17896737


    CIHR Emerging Team Grant
    Title: Emerging team in rare diseases: Achieving the 'triple aim' for inborn errors of metabolism ~ $1,490,492. (2012-2017).

    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)

    Children's and Women's Health Center: Telethon fund
    Title: Determination of the Incidence and Natural history of carnitine Palmitoyltransferase I deficiency in BC First Nations ~ $20,340. Coinvestigators: Sinclair G, Arbour L. (2006-2008).

    Honours & Awards
    Dr. Parminder Singh Award, British Columbia Pediatric Society — 2011
    Research Group Members
    • Graham Sinclair
    • Sylvia Stockler
    • Clara Van Karnebeek