Neuropathology of Glutaric Acidemia Type 1

Abstract

The neuropathological findings in 5 children and 1 adult (8 months-40 years of age) with glutaric acidemia type 1 (GA-1), all N American aboriginals with the same homozygous mutation, were studied at the Manitoba Institute of Child Health, Winnipeg, and University of Western Ontario, London, Ontario, Canada; and University Children’s Hospital, Heidelberg, Germany.

Keywords

• glutaric acidemia type 1
• homozygous mutation
• macroencephaly