[Glutaric aciduria type 1: phenotypic variability. Report of 6 patients].

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. One patient had an early and important developmental delay, but never suffered an encephalopathic crisis. Two...

Topics

Share this publication in a Topic to start or enrich a Post.

• Share to Amino Acid Metabolism, Inborn Errors
• Share to Child