Glutaric Aciduria Type 1: Enzymatic and Neuroradiologic Investigations of Two Kindreds

Citation:

Amir N, Elpeleg ON, Shalev RS, Christensen E: Glutaric aciduria type 1: enzymatic and neuroradiologic investigations of two kindreds. Journal of Pediatrics 114(6):983-989, June 1989.

Abstract

Notes:

• One presymptomatic infant developed cerebral atrophy 3 years before clinical manifestations appeared.
• Frontotemporal atrophy is much more pronounced in symptomatic patients.
• Some people with the mutation had no clinical manifestations.
• The authors question how some people can remain asymptomatic well into adulthood, while others show acute neurological manifestations in infancy.