Article
3-Methylglutaconic aciduria: ten new cases with a possible new phenotype.
Brain & development - 1 Nov 1994
al Aqeel A, Rashed M, Ozand P T, Brismar J, Gascon G G, al Odaib A, Dabbagh O
Abstract excerpt
3-Methylglutaconic aciduria is an organic aciduria with diverse phenotypic presentations. In more than half of the cases it is a 'neurologic or silent organic aciduria', and, except for one subtype, the biochemical defect is unknown. This report describes 10 new patients. Four of them presented w...
Topics
- Acidosis
- Basal Ganglia Diseases
- Child, Preschool
- Female
- Glutarates
- Humans
- Infant
- Male
- Metabolism, Inborn Errors
- Nervous System Diseases
- Phenotype
- Ubiquinone