| CITRULLINEMIA TYPE I (ASS) | |
| ARGININOSUCCINATE SYNTHETASE DEFICIENCY; ASS DEFICIENCY | |
|
215700
OMIM = Online Mendelian Inheritance of Men | |
|
247525 | |
| argininosuccinate synthetase | |
| 6.3.4.5 | |
| rare (1:70000 - 1:100000) autosomal recessive mutation in the ASS1 gene | |
| Laboratory findings | Arginine dec (plasma) Citrulline inc (plasma) Hippuric acid normal/inc (urine) Citrulline inc (urine) Ammonia inc (blood) Argininosuccinate synthetase dec (liver) Glutamine inc (plasma) Glycine inc (plasma) Glycine inc (urine) N-Acetylcitrulline inc (urine) Orotic acid normal/inc (urine) Orotidine normal/inc (urine) Partial Thromboplastin Time (PTT) normal/inc (blood) Transaminases (ASAT/ALAT) normal/inc (serum) Uric acid normal/inc (urine) |
| Symptoms | coma developmental delay hiccups hyperammonemia respiratory alkalosis ataxia behavior, abnormal or bizarre, confusion behavior, hyperactive, restless cerebral edema Encephalopathic crisis, acute encephalopathy erythema feeding difficulties, poor feeding feeding, protein aversion or intolerance lethargy, drowsiness, apathy liver failure recurrent or intermittent skin defect strokelike episodes vomiting Amino acids, plasma Amino acids, urine apnea cirrhosis or fibrosis of liver CT, brain, abnormalities [-] early death epilepsy episodic course (clinical symptoms) fever hepatomegaly (large liver) hypothermia hypotonia hypoventilation irritability liver involvement or dysfunction mental retardation onset, adulthood onset, infancy onset, neonatal Organic acids, urine seizures speech development, delayed, abnormal tachypnea, hyperpnea, dyspnea, hyperventilation temperature instability |