ISSN:
1432-1076
Keywords:
3-methylglutaconyl-CoA hydratase deficiency
;
Organic aciduria
;
3-methylglutaconic acid
;
3-methylglutaric acid
Source:
Springer Online Journal Archives 1860-2000
Topics:
Medicine
Notes:
Abstract 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 3-methylglutaric aciduria leading to the tentative diagnosis of 3-methylglutaconyl-CoA hydratase deficiency. Metabolite excretion was correlated with variation of leucine intake. 3-methyl-3-hydroxyglutaryl-CoA lyase activity in cultured fibroblasts was normal. The suspected metabolic defect was not demonstrable in cultured skin fibroblasts, however.
Type of Medium:
Electronic Resource
URL:
http://dx.doi.org/10.1007/BF00442306
