| ARGININEMIA | |
| HYPERARGININEMIA, ARGINASE DEFICIENCY | |
|
207800
OMIM = Online Mendelian Inheritance of Men | |
|
90 | |
| Arginase-1 | |
| 3.5.3.1 | |
| rare (1:1000.000) autosomal recessive mutation arginase-1 gene | |
| Laboratory findings | Ammonia normal/inc (blood) Arginine inc (plasma) Citrulline normal/inc (plasma) Glutamine inc (plasma) Guanidinoacetic acid / Guanidinoacetate inc (plasma) Orotic acid normal/inc (urine) Hippuric acid normal/inc (urine) Arginase dec (erythrocytes) Arginase dec (liver) Arginine inc (cerebrospinal fluid) Homoarginine inc (plasma) Homoarginine inc (cerebrospinal fluid) Partial Thromboplastin Time (PTT) inc (blood) Quick dec (blood) Transaminases (ASAT/ALAT) normal/inc (serum) Uracil inc (urine) Urea normal/dec (serum) |
| Symptoms | developmental delay hyperammonemia spastic diplegia/quadriplegia/tetraplegia buphthalmus ataxia behavior, abnormal or bizarre, confusion Coagulopathy/Coagulation factors feeding difficulties, poor feeding feeding, protein aversion or intolerance spastic paraplegia vomiting Amino acids, plasma behavior, hyperactive, restless cerebral atrophy cholestasis chorea or athetosis episodic course (clinical symptoms) failure to thrive growth retardation, poor growth hypotonia irritability jaundice lethargy, drowsiness, apathy mental retardation microcephaly (<2 SD for age) MRI, brain, abnormalities [-] onset, adulthood onset, childhood onset, infancy onset, neonatal Organic acids, urine seizures strokelike episodes |