Persistent excretion of 3-methylglutaconic acid was found in a 6-month-old infant with multiple minor physical malformations and delayed development. During two episodes of intercurrent viral illness, the patient developed severe metabolic acidosis and excreted large amounts of lactate, 3-hydroxybut
โฆ LIBER โฆ
A molecular lesion in a Japanese patient with severe phenotype of 3-methylglutaconic aciduria type I
โ Scribed by Mika Matsumori; Yutaka Shoji; Tsutomu Takahashi; Yasuko Shoji; Goro Takada
- Book ID
- 108971055
- Publisher
- John Wiley and Sons
- Year
- 2005
- Tongue
- English
- Weight
- 253 KB
- Volume
- 47
- Category
- Article
- ISSN
- 1328-8067
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## Abstract A diagnosis of 3โmethylglutaconic aciduria type I (OMIM: 250950) based on elevated urinary excretion of 3โmethylglutaconic acid (3MGA), 3โmethylglutaric acid (3MG) and 3โhydroxyisovaleric acid (3HIVA) was made in a 61โyearโold female patient presenting with leukoencephalopathy slowly pr
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