N-acetylglutamate synthase deficiency
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Epidemiology
rare
Pathology
Genetics
- autosomal recessive
- associated with defects in NAGS gene
Clinical manifestations
- somnolence
- tachypnea
- feeding difficulties
- severe neurologic presentation, uncontrollable movements
- developmental delay
- visual impairment
- failure to thrive
- 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