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3-Methylglutaconic and 3-methylglutaric aciduria in a patient with suspected 3-methylglutaconyl-CoA hydratase deficiency

✍ Scribed by W. Lehnert; J. Scharf; U. Wendel

Publisher
Springer
Year
1985
Tongue
English
Weight
336 KB
Volume
143
Category
Article
ISSN
0340-6997

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✦ Synopsis

A girl suffering from marked muscular hypotonia, severe statomotor and mental retardation, bilateral optic atrophy with chorioretinal degeneration, convulsions and a moderate compensated metabolic acidosis is described. Screening for metabolic disorders revealed massive 3-methylglutaconic with 3methylglutaric aciduria leading to the tentative diagnosis of 3-methylglutaconyl-CoA hydratase deficiency. Metabolite excretion was correlated with variation of leucine intake. 3-methyl-3hydroxyglutaryl-CoA lyase activity in cultured fibroblasts was normal. The suspected metabolic defect was not demonstrable in cultured skin fibroblasts, however.

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Episodes of severe metabolic acidosis in
Episodes of severe metabolic acidosis in a patient with 3-methylglutaconic aciduria
✍ E. A. Haan; R. D. Scholem; J. J. Pitt; J. E. Wraith; G. K. Brown πŸ“‚ Article πŸ“… 1987 πŸ› Springer 🌐 English βš– 481 KB

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