Isovaleric acidaemia in two South African children

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dc.contributor.authorMalan, C.en_ZA
dc.contributor.authorNeethling, A. C.en_ZA
dc.contributor.authorShanley, B. C.en_ZA
dc.date.accessioned2011-03-18T14:57:52Z
dc.date.available2011-03-18T14:57:52Z
dc.date.issued1977
dc.descriptionCITATION: Malan, C., Neethling, A. C. & Shanley, B. C. 1977. Isovaleric acidaemia in two South African children. South African Medical Journal, 51(26):980-983.
dc.descriptionThe original publication is available at http://www.samj.org.za
dc.description.abstractTwo 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.
dc.description.versionPublisher’s version
dc.identifier.citationMalan, C., Neethling, A. C. & Shanley, B. C. 1977. Isovaleric acidaemia in two South African children. South African Medical Journal, 51(26):980-983
dc.identifier.issn2078-5135 (online)
dc.identifier.issn0256-9574 (print)
dc.identifier.urihttp://hdl.handle.net/10019.1/7699
dc.language.isoenen_ZA
dc.publisherHealth & Medical Publishing Group
dc.rights.holderSouth African Medical Journal
dc.subjectLeucine
dc.subjectMetabolism -- Disorders
dc.subjectMetabolic disorders in children
dc.titleIsovaleric acidaemia in two South African childrenen_ZA
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