Glutaric Aciduria Type I: Clinical Heterogeneity and Neuroradiologic Features

Citation:

Amir N, El-Peleg O, Shalev RS, Christensen E: Glutaric aciduria type I: clinical heterogeneity and neuroradiologic features. Neurology 37:1654-1657, October 1987.

Abstract

Notes:

• Two pairs of siblings (4 children) are described.
• Bilateral frontotemporal atrophy was a pattern not previously described.
• Symptoms observed:
  • hypotonia
  • severe dystonic posturing
  • excessive sweating
  • somnolence
  • irritability