| GLUTATHIONE SYNTHETASE DEFICIENCY | |
| PYROGLUTAMIC ACIDURIA; 5-OXOPROLINURIA; ACIDEMIA, PYROGLUTAMIC, GSD | |
|
266130
OMIM = Online Mendelian Inheritance of Men | |
|
32 | |
| glutathione synthetase | |
| 6.3.2.3 | |
| rare autosomal recessive two types: A (severe form) and B (milder form) | |
| Laboratory findings | Ammonia inc (blood) Cysteinyl leukotrienes (LTC4) (plasma) Cysteinyl leukotrienes (LTC4) (urine) Cystinylglycine dec (plasma) Glutathione inc (urine) Glutathione dec (urine) Glutathione synthetase dec (erythrocytes) Glutathione synthetase dec (fibroblasts) L-Pyroglutamic acid (5-Oxoproline) inc (urine) L-Pyroglutamic acid (5-Oxoproline) dec (plasma) pH normal/dec (blood) Proline inc (plasma) |
| Symptoms | anemia ataxia corneal clouding hypotonia infections (severe or recurrent) jaundice lactic acidosis mental retardation metabolic acidosis motor retardation myopathy neurological deterioration psychomotor retardation psychosis retinopathy Amino acids, plasma cerebellar atrophy or hypoplasia hemolysis hemolytic anemia hyperammonemia onset, childhood onset, infancy onset, neonatal Organic acids, urine seizures spastic diplegia/quadriplegia/tetraplegia thromboembolism tremor or twitching vomiting |