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3-Methylglutaconic aciduria: a phenotype in which activity of 3-methylglutaconyl-coenzyme A hydratase is normal

✍ Scribed by K. M. Gibson; W. L. Nyhan; L. Sweetman; K. Narisawa; W. Lehnert; P. Divry; B. H. Robinson; K. S. Roth; F. A. Beemer; F. J. Sprang; M. Duran; S. K. Wadman; B. Cartigny

Publisher: Springer
Year: 1988
Tongue: English
Weight: 816 KB
Volume: 148
Category: Article
ISSN: 0340-6997
DOI: 10.1007/bf00441821

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✍ W. Lehnert; J. Scharf; U. Wendel 📂 Article 📅 1985 🏛 Springer 🌐 English ⚖ 336 KB

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 3meth