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3-Methylglutaconic aciduria with persistent metabolic acidosis and ‘uncoupling episodes’

✍ Scribed by O. N. Elpeleg; D. Meiron; V. Barash; Y. Hurwitz; I. Tal; N. Amir


Publisher
Springer
Year
1990
Tongue
English
Weight
196 KB
Volume
13
Category
Article
ISSN
0141-8955

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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