A new neonatal case of N-acetylglutamate synthase deficiency treated by carbamylglutamate

J Inherit Metab Dis. 1995;18(1):61-5. doi: 10.1007/BF00711374.

Abstract

N-Acetylglutamate synthase (NAGS) deficiency is a rare, autosomal recessive urea-cycle disease. Its clinical presentation is not different from the other hereditary hyperammonaemias. We report a new neonatal case with hyperammonaemic coma. A test by carbamylglutamate was performed at 25 days of life. Since then, the child was treated by carbamylglutamate three or four times a day with a total dose of 80-100 mg/kg per day. Today, the boy is 1 year old. He receives carbamylglutamate 200 mg four times a day. He has normal somatic and neurological development and good metabolic balance.

Publication types

  • Case Reports

MeSH terms

  • Acetyltransferases / deficiency*
  • Amino Acid Metabolism, Inborn Errors / drug therapy*
  • Amino Acid Metabolism, Inborn Errors / enzymology
  • Amino Acid Metabolism, Inborn Errors / urine
  • Amino Acids / urine
  • Amino-Acid N-Acetyltransferase
  • Ammonia / urine
  • Glutamates / therapeutic use*
  • Humans
  • Infant, Newborn
  • Male
  • Ornithine Carbamoyltransferase Deficiency Disease

Substances

  • Amino Acids
  • Glutamates
  • N-carbamylglutamate
  • Ammonia
  • Acetyltransferases
  • Amino-Acid N-Acetyltransferase
  • NAGS protein, human