Article
[Glutaric aciduria type 1: phenotypic variability. Report of 6 patients].
Arquivos de neuro-psiquiatria - 1 Sept 1998
Casella E B, Bresolin A U, Valente M, Daniel D A, Machado J J, Vieira M A, Tenório A G, Chamoles N
Abstract excerpt
We report six patients with glutaric aciduria type 1 in four families. The patients had marked clinical variability, even within families. Three of the patients studied were normal until the onset of neurologic abnormalities, that presented as an encephalitis-like illness in the first year of age...
Topics
- Adult
- Amino Acid Metabolism, Inborn Errors
- Amino Acids, Essential
- Child
- Child, Preschool
- Female
- Glutarates
- Humans
- Male
- Phenotype