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N-acetylglutamate synthase deficiency
Epidemiology: rare
Pathology:
- hyperammonemia
Genetics:
1) autosomal recessive
2) associated with defects in NAGS gene
Clinical manifestations:
1) somnolence
2) tachypnea
3) feeding difficulties
4) severe neurologic presentation, uncontrollable movements
5) developmental delay
6) visual impairment
7) failure to thrive
8) symptoms may be precipitated by high-protein diet or febrile illness
Laboratory:
- severe neonatal or late onset hyperammonemia without increased orotic acid in urine
Management:
- carglumic acid FDA-approved
General
enzyme deficiency
Database Correlations
OMIM 237310
References
OMIM :accession 237310