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Summary
N-ACETYLGLUTAMATE SYNTHETASE DEFICIENCY NAGS DEFICIENCY
HYPERAMMONEMIA III N-ACETYLGLUTAMATE SYNTHETASE DEFICIENCY
237310
OMIM = Online Medalian Inheritance of Men
927
17q21.31
  • carbamylglutamate
  • low-protein diet
very rare
autosomal recessive
mutation in the NAGS gene
symptoms
Amino acids, plasma
ataxia
behavior. aggressive
coma
developmental delay
diarrhea
early death
encephalopathy
failure to thrive
feeding difficulties, poor feeding
hyperammonemia
hyperreflexia
hypotonia
lethargy, drowsiness, malaise or sleep disorder
metabolic acidosis
onset, childhood
onset, neonatal
Organic acids, urine
respiratory distress
seizures
temperature instability
vomiting
laboratory finding
Citrulline5.0015.007.0050.00+€mol/lplasmaNeonatal
Orotic acid0.005.000.0011.00normal-decreasedurineNeonatal, Infancy
Ammonia200.002000.0025.0080.00increasedbloodNeonatal, Infancy
N-Acetylglutamate synthetase3.0020.0034.00203.00nmol/min/g proteinliver
Ornithine 36.0096.00increasedplasma
Alanine increasedplasma
L-Glutamine increasedplasmaNeonatal, Infancy
Arginine decreasedplasmaall
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