Isovaleric acidaemia in two South African children
Date
1977
Authors
Journal Title
Journal ISSN
Volume Title
Publisher
Health & Medical Publishing Group
Abstract
Two siblings who were repeatedly admitted to hospital with acute episodes of vomiting, dehydration and coma were found to be suffering from isovaleric acidaemia. This condition is a rare inherited abnormality of leucine metabolism, which is frequently fatal in the early weeks of life and leads to mental retardation in a high proportion of those who survive early attacks. However, both out patients were of normal intelligence. The clinical presentation, biochemical defect, diagnosis and suggested therapies are reviewed.
Description
CITATION: Malan, C., Neethling, A. C. & Shanley, B. C. 1977. Isovaleric acidaemia in two South African children. South African Medical Journal, 51(26):980-983.
The original publication is available at http://www.samj.org.za
The original publication is available at http://www.samj.org.za
Keywords
Leucine, Metabolism -- Disorders, Metabolic disorders in children
Citation
Malan, C., Neethling, A. C. & Shanley, B. C. 1977. Isovaleric acidaemia in two South African children. South African Medical Journal, 51(26):980-983