Article
Phenotypic heterogeneity in the syndromes of 3-methylglutaconic aciduria.
The Journal of pediatrics - 1 Jun 1991
Gibson K M, Sherwood W G, Hoffman G F, Stumpf D A, Dianzani I, Schutgens R B, Barth P G, Weismann U, Bachmann C, Schrynemackers-Pitance P
Abstract excerpt
Combined 3-methylglutaconic and 3-methylglutaric aciduria, one of the more common urinary organic acid abnormalities, has been observed in at least three clinical syndromes. We studied an additional seven patients with 3-methylglutaconic aciduria, four of whom were best categorized as having the...
Topics
- Amino Acid Metabolism, Inborn Errors
- Coenzyme A
- Glutarates
- Humans
- Hydroxymethylglutaryl CoA Reductases
- Meglutol
- Phenotype