Premium
Isovaleric acidaemia presenting with dwarfism, cataract and congenital abnormalities
Author(s) -
Duran M.,
Bruinvis L.,
Ketting D.,
Wadman S. K.,
Pelt B. C.,
BatenburgPlenter A. M.
Publication year - 1982
Publication title -
journal of inherited metabolic disease
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.462
H-Index - 102
eISSN - 1573-2665
pISSN - 0141-8955
DOI - 10.1007/bf01800006
Subject(s) - dwarfism , medicine , presentation (obstetrics) , pediatrics , cataracts , girl , growth retardation , mentally retarded , surgery , pregnancy , biology , psychology , ophthalmology , genetics , gene , developmental psychology
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.