| ARGININOSUCCINIC ACIDURIA (ASL) | |
| ARGININOSUCCINASE DEFICIENCY; ARGININOSUCCINATE LYASE DEFICIENCY; ASL DEFICIENCY | |
|
207900
OMIM = Online Mendelian Inheritance of Men | |
|
23 | |
| argininosuccinate lyase | |
| 4.3.2.1 | |
| rare (1:150000) autosomal recessive mutation in the gene encoding argininosuccinate lyase | |
| Laboratory findings | Arginine normal/dec (plasma) Argininosuccinic acid inc (plasma) Citrulline inc (plasma) Hippuric acid normal/inc (urine) Argininosuccinic acid inc (urine) L-Lysine inc (urine) Ammonia inc (blood) Argininosuccinase dec (fibroblasts) Argininosuccinase dec (liver) Glutamine inc (plasma) Glycine inc (urine) L-Lysine inc (plasma) Orotic acid normal/inc (urine) Orotidine inc (urine) Pseudouridine inc (cerebrospinal fluid) Transaminases (ASAT/ALAT) normal/inc (serum) Uracil inc (urine) Uric acid normal/inc (urine) Uridine inc (cerebrospinal fluid) |
| Symptoms | coma strokelike episodes ataxia behavior, abnormal or bizarre, confusion developmental delay Encephalopathic crisis, acute encephalopathy feeding difficulties, poor feeding feeding, protein aversion or intolerance hyperammonemia lethargy, drowsiness, apathy pili torti preeclampsia, maternal shortened gestation time trichorrhexis nodosa vomiting Amino acids, plasma Amino acids, urine behavior, hyperactive, restless diarrhea episodic course (clinical symptoms) failure to thrive growth retardation, poor growth hepatomegaly (large liver) liver involvement or dysfunction mental retardation onset, infancy onset, neonatal Organic acids, urine seizures spastic diplegia/quadriplegia/tetraplegia temperature instability |