Isovaleric acidaemia presenting with dwarfism, cataract and congenital abnormalities
- 26 June 1981
- journal article
- research article
- Published by Wiley in Journal of Inherited Metabolic Disease
- Vol. 5 (2) , 125-127
- https://doi.org/10.1007/bf01800006
Abstract
Isovaleric acidaemia was diagnosed in a 9-year-old girl with an unusual clinical presentation. She was severely mentally retarded, had an extreme growth retardation, bilateral cataracts, multiple fractures of the long bones, vitium cordis and malformations of the head. Frequent infections occurred since early childhood. The relevance of these findings is discussed.This publication has 11 references indexed in Scilit:
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