Partial N-acetylglutamate synthetase deficiency: a new case with uncontrollable movement disorders

J Inherit Metab Dis. 1992;15(3):395-8. doi: 10.1007/BF02435986.
No abstract available

Publication types

  • Case Reports

MeSH terms

  • Acetyltransferases / deficiency*
  • Amino-Acid N-Acetyltransferase
  • Ammonia / blood
  • Arginine / therapeutic use
  • Benzoates / therapeutic use
  • Benzoic Acid
  • Brain / pathology
  • Dietary Proteins / administration & dosage
  • Female
  • Humans
  • Infant
  • Magnetic Resonance Imaging
  • Movement Disorders / enzymology*
  • Movement Disorders / pathology
  • Orotic Acid / urine

Substances

  • Benzoates
  • Dietary Proteins
  • Orotic Acid
  • Ammonia
  • Benzoic Acid
  • Arginine
  • Acetyltransferases
  • Amino-Acid N-Acetyltransferase
  • NAGS protein, human