From: Presentation and management of N-acetylglutamate synthase deficiency: a review of the literature
Neonatal presentation—clinical symptomsa | Post-neonatal presentation—clinical symptomsa | Biochemical signs in blooda |
---|---|---|
n = 38 | n = 28 | |
Poor feeding/anorexia/intolerance (n = 16) | Vomiting (n = 12) | Elevated ammonia (n = 43) |
Vomiting (n = 13) | Confusion/disorientation (n = 7) | Elevated glutamine (n = 29) |
Coma (n = 12) | Ataxia (n = 7) | Decreased citrulline (n = 20) |
Lethargy (n = 12) | Lethargy (n = 7) | Elevated alanine (n = 9) |
Hypotonia (n = 7) | Avoidance of high-protein | Decreased arginine (n = 7) |
Hypertonia (n = 6) | Foods (n = 6) | Respiratory alkalosis (n = 6) |
Seizures (n = 6) | Coma (n = 6) | Decreased isoleucine (n = 4) |
Tachypnea (n = 6) | Decreased level of | Elevated lactate (n = 4) |
Encephalopathy (n = 4) | Consciousness (n = 6) | Decreased leucine (n = 3) |
Respiratory distress (n = 4) | Seizures (n = 5) | Decreased ornithine (n = 3) |
Unresponsiveness (n = 4) | Hypotonia (n = 5) | Elevated arginine (n = 3) |
Abnormal movements (n = 3) | Small head circumference (n = 5) | Elevated lysine (n = 3) |
Hepatomegaly (n = 3) | Abnormal reflexes (n = 4) | Coagulation problems (n = 2) |
Poor sucking (n = 3) | Weight at low percentile (n = 4) | Decreased BUN (n = 2) |
Somnolence/drowsiness (n = 3) | Combativeness/aggression (n = 3) | Elevated AST (n = 2) |
Convulsions (n = 2) | Hepatomegaly (n = 3) | Elevated phenylalanine (n = 2) |
Hyperthermia (n = 2) | Nausea (n = 3) | Hypoglycemia (n = 2) |
Irritability (n = 2) | Somnolence/drowsiness (n = 3) |  |
Tremor/trembling (n = 2) | Anorexia (n = 2) |  |
 | Bizarre behavior (n = 2) |  |
 | Convulsions (n = 2) |  |
 | Headaches (n = 2) |  |
 | Involuntary movements (n = 2) |  |
 | Restlessness (n = 2) |  |
 | Poor growth (n = 2) |  |