Hyperammonemia due to N-acetylglutamate synthase deficiency

Orpha code: 927OMIM code: 237310

Definicja

A rare disorder of urea cycle metabolism causing a deficit of ammonia detoxification and arginine synthesis, and characterized by hyperammonemia of variable severity. Manifestations range from neonatal presentation of poor feeding, vomiting, lethargy, tachypnea, convulsions and coma to adult-onset headaches, hazy gastrointestinal symptoms, seizures, behavioral/psychiatric problems, confusion and lethargy.

Disease data
Klasyfikacja

Disease

Synonimy
NAGS deficiency
Niedobór NAGS
Kod ORPHA
927
Kod OMIM
237310
Kod ICD10
E72.2
Kod ICD11
5C50.AY

No additional description.

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