This Article
Right arrow Full Text
Right arrow Full Text (PDF)
Right arrow P3Rs: Submit a response
Right arrow Alert me when this article is cited
Right arrow Alert me when P3Rs are posted
Right arrow Alert me if a correction is posted
Right arrow Citation Map
Services
Right arrow E-mail this article to a friend
Right arrow Similar articles in this journal
Right arrow Similar articles in PubMed
Right arrow Alert me to new issues of the journal
Right arrow Add to My File Cabinet
Right arrow Download to citation manager
Right arrow reprints & permissions
Citing Articles
Right arrow Citing Articles via HighWire
Right arrow Citing Articles via CrossRef
Right arrow Citing Articles via Google Scholar
Google Scholar
Right arrow Articles by Applegarth, D. A.
Right arrow Articles by Lowry, R.{s. a. R. B.
Right arrow Search for Related Content
PubMed
Right arrow PubMed Citation
Right arrow Articles by Applegarth, D. A.
Right arrow Articles by Lowry, R.{s. a. R. B.
Related Collections
Right arrow Nutrition & Metabolism
Right arrow Infectious Disease & Immunity

PEDIATRICS Vol. 105 No. 1 January 2000, p. e10

ELECTRONIC ARTICLE:
Incidence of Inborn Errors of Metabolism in British Columbia, 1969-1996

Received Mar 2, 1999; accepted Jul 14, 1999.

Derek A. Applegarth*, Dagger , §, Jennifer R. Toone, and RT*§; and R. Brian Lowryparallel

From the Departments of * Pediatrics and Dagger  Pathology and Laboratory Medicine and Genetics, University of British Columbia; and § Biochemical Diseases Laboratory, British Columbia's Children's Hospital, Vancouver, British Columbia, Canada; and the parallel  Departments of Medical Genetics and Pediatrics, Alberta Children's Hospital Research Centre, University of Calgary, and British Columbia Health Surveillance Registry, Division of Vital Statistics-Government of British Columbia, Vancouver, British Columbia, Canada.

Objective.  To determine how many children with specific types of inborn errors of metabolism are born each year in British Columbia, Canada. This population provides a relatively unique setting for collection of accurate and uniform incidence data because the diagnoses are all made through one laboratory in a population with universal access to government-funded medical care.

Methodology.  We used the records of the Biochemical Diseases Laboratory, Children's Hospital, Vancouver (the central referral point for all metabolic diagnoses in British Columbia) to identify all patients diagnosed with the metabolic diseases defined below. We obtained incidence figures by including only the children diagnosed with the diseases covered in this article who were confirmed as having been born within the province for the years 1969 to 1996. The diseases covered were diseases of amino acids, organic acids, the urea cycle, galactosemia, primary lactic acidoses, glycogen storage diseases, lysosomal storage diseases, and diseases involving specifically peroxisomal and mitochondrial respiratory chain dysfunction. Because the technology needed for diagnosis of specific disease groups was in place at different times our data for the different disease groups correspond to different time frames. We have also adjusted the time frames used to allow for the likelihood that some diseases may not come to medical attention for some time after birth. For instance the incidence of amino acid diseases was assessed throughout the whole of this time frame but the incidence of peroxisomal diseases was restricted to 1984 to 1996 because this was the time frame during which the technology needed for diagnosis was in place and reliable. Most disease group statistics included at least 400 000 births.

Results.  The overall minimum incidence of the metabolic diseases surveyed in children born in British Columbia is ~40 cases per 100 000 live births. This includes phenylketonuria (PKU) and galactosemia which are detected by a newborn screening program. Metabolic diseases, which were not screened for at birth, ie, those with PKU and galactosemia subtracted from the total, have a minimal incidence of ~30 cases per 100 000 live births. This diagnostic dilemma group would present to pediatricians for diagnosis. Not all metabolic diseases have been surveyed and our data are restricted to the following metabolic disease groups. Approximately 24 children per 100 000 births (~60% of the total disease groups surveyed) have a disease involving amino acids (including PKU), organic acids, primary lactic acidosis, galactosemia, or a urea cycle disease. These children all have metabolic diseases involving small molecules. Approximately 2.3 children per 100 000 births (~5%) have some form of glycogen storage disease. Approximately 8 per 100 000 births (20%) have a lysosomal storage disease; ~3 per 100 000 births (7%-8%) have a respiratory chain-based, mitochondrial disease and ~3 to 4 per 100 000 (7%-8%) of births have a peroxisomal disease. The diseases involving subcellular organelles represent approximately half of the diagnostic dilemma group. The incidence of each of the specific diseases diagnosed, including apparently rare diseases such as nonketotic hyperglycinemia, is to be found in the text. The metabolic diseases reported in this survey represent over 10% of the total number of single gene disorders in our population.

Conclusions.  Our data provide a good estimate of metabolic disease incidence, for the disease groups surveyed, in a predominantly Caucasian population. Incidence data for metabolic diseases are hard to collect because in very few centers are diagnoses centralized for a population with uniform access to modern health care and this has been the case for our population during the course of the study. We foresee a need for accurate information on the incidence of metabolic diseases as a guide to how to provide diagnostic and therapeutic services for metabolic diseases and the figures should help in assessing such needs in similar populations.  Key words:  incidence data, metabolic diseases, lysosomal, peroxisomal, mitochondrial, small molecule.




This article has been cited by other articles:


Home page
 NeoReviewsHome page
K. W. So and P. C. Ng
International Perspectives: Neonatology in Hong Kong: 10 Years After the Return of Sovereignty to China
NeoReviews, December 1, 2007; 8(12): e513 - e521.
[Full Text] [PDF]

Home page
 Clin. Chem.Home page
C. Lin and J. K. Tusa
Equimolar Ammonia Interference in Potassium Measurement on the Osmetech OPTI CCA: A Reply.
Clin. Chem., November 1, 2006; 52(11): 2116 - 2117.
[Full Text] [PDF]

Home page
 Arch. Dis. Child.Home page
S Sanderson, A Green, M A Preece, and H Burton
The incidence of inherited metabolic disorders in the West Midlands, UK
Arch. Dis. Child., November 1, 2006; 91(11): 896 - 899.
[Abstract] [Full Text] [PDF]

Home page
 NeurologyHome page
J. E. Hoover-Fong, S. Shah, J. L.K. Van Hove, D. Applegarth, J. Toone, and A. Hamosh
Natural history of nonketotic hyperglycinemia in 65 patients
Neurology, November 23, 2004; 63(10): 1847 - 1853.
[Abstract] [Full Text] [PDF]

Home page
 J. Am. Soc. Nephrol.Home page
J.-P. Grunfeld, D. Chauveau, and M. Levy
Anderson-Fabry Disease: Its Place among Other Genetic Causes of Renal Disease
J. Am. Soc. Nephrol., June 1, 2002; 13(90002): S126 - 129.
[Full Text] [PDF]