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Mild form of 3-methylglutaconic aciduria type IV and mutation in the TMEM70 genes

✍ Scribed by Stojanović, Vesna; Doronjski, Aleksandra

Book ID: 120573074
Publisher: Walter de Gruyter GmbH & Co. KG
Year: 2013
Tongue: English
Weight: 226 KB
Volume: 26
Category: Article
ISSN: 0334-018X
DOI: 10.1515/jpem-2012-0291

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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