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GENATLAS PHENOTYPE
last update : 20-01-2016
Symbol ANHA
Location 17q21.31
Name acute neonatal hyperammonemia
Other name(s) N-acetylglutamate synthetase deficiency
Corresponding gene NAGS
Other symbol(s) NAGDS
Main clinical features
  • neonatal form: somnolence, tachypnea, and feeding difficulties, hyperammonemia with high plasma concentrations of alanine and glutamine , early death
  • or late-onset hyperammonemia, adult presentations include; confusional episodes, neuropsychiatric symptoms and encephalopathy
    • Genetic determination autosomal recessive
    Function/system disorder metabolism/aminoacids
    Type disease
    Gene product
    Name N-acetylglutamate synthase
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    missense   abnormal protein/loss of function  
    Remark(s) . NAGS deficiency who harbored two novel NAGS mutations and who showed excellent responsiveness during 1 year of N-carbamylglutamate treatment (PMID: 25787344))
  • treatment of NAGS deficiency with N-carbamyglutamate, a stable analog of NAG, can restore deficient urea cycle function and normalize blood ammonia in affected patients (PMID: 23776373))