Inborn errors of metabolism in the Maritimes, with special reference to maple-syrup-urine disease and Fabry's disease

• Published in: Clinical biochemistry Vol. 9; no. 3; p. 173
• Main Authors: Spence, M W, Dewolfe, M S
• Format: Journal Article
• Language: English
• Published: United States 01-01-1976
• Subjects: Amino Acids - blood; Carboxy-Lyases - blood; Ceramides - blood; Child, Preschool; Demography; Fabry Disease - epidemiology; Female; Galactosidases - blood; Homozygote; Humans; Infant; Leukocytes - enzymology; Male; Maple Syrup Urine Disease - epidemiology; Metabolism, Inborn Errors - epidemiology; New Brunswick; Nova Scotia; New Brunswick; Nova Scotia
• ISSN: 0009-9120
• DOI: 10.1016/S0009-9120(76)80044-6

1. The study of inborn errors of metabolism in man is of wide, general relevance to human biology and medicine, because these derangements are unique human models for the study of the sequence of normal metabolic events and their dependence upon genetic control. These disorders constitute naturally occurring mutations in man; as such, they afford the same opportunity for major contributions to human biology that bacterial mutants provide for molecular biology. 2. In terms of human suffering and cost, to affected kindred and the community at large, the importance of inborn errors of metabolism is out of all proportion to their small numerical incidence. Therefore, efforts must be intensified to identify affected individuals and carriers and to formulate methods of prevention and treatment. 3. The overall study of inborn errors of metabolism is illustrated by experience with two such disorders in the Maritime provinces.