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Inherited 3-methylglutaconic aciduria in two brothers—Another defect of leucine metabolism

✍ Scribed by M. Duran; F.A. Beemer; A.S. Tibosch; L. Bruinvis; D. Ketting; S.K. Wadman

Book ID
119459827
Publisher
Elsevier Science
Year
1982
Tongue
English
Weight
287 KB
Volume
101
Category
Article
ISSN
1097-6833

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## Abstract A diagnosis of 3‐methylglutaconic aciduria type I (OMIM: 250950) based on elevated urinary excretion of 3‐methylglutaconic acid (3MGA), 3‐methylglutaric acid (3MG) and 3‐hydroxyisovaleric acid (3HIVA) was made in a 61‐year‐old female patient presenting with leukoencephalopathy slowly pr