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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
symptoms
Amino acids, plasma
ataxia
coma
diarrhea
early death
encephalopathy
failure to thrive
hyperammonemia
hyperreflexia
hypotonia
lethargy, drowsiness, malaise or sleep disorder
metabolic acidosis
onset, child
onset, newborn
Organic acids, urine
seizures
vomiting
laboratory finding
Citrulline5.0015.0010.0045.00-+├╝mol/lplasmanewborn
Orotic acid0.005.000.0011.00normal-decreasedurinechildhood
Ammonia200.002000.0025.0080.00increasedbloodinfant
N-Acetylglutamate synthetase3.0020.0034.00203.00nmol/min/g proteinliver
Ornithine 27.00103.00increasedplasma
Alanine increasedplasma
Glutamine increasedplasma
Arginine decreasedplasmaall
Literature
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