| 3-METHYLGLUTACONIC ACIDURIA (TYPE I) | |
| 3-METHYLGLUTACONICACIDURIA; ACIDURIA, 3-METHYLGLUTACONIC TYPE I (AUH), 3-@METHYLGLUTACONIC ACIDURIA, TYPE I | |
|
250950
OMIM = Online Mendelian Inheritance of Men | |
|
67046 | |
| Methylglutaconyl-CoA hydratase, mitochondrial | |
| 4.2.1.18 | |
| very rare autosomal recessive mutation in the AUH gene disorder of leucine degradation | |
| Laboratory findings | 3-Hydroxyisovaleric acid inc (urine) 3-Methylglutaconic acid inc (urine) 3-Methylglutaconyl-CoA hydratase dec (fibroblasts) 3-Methylglutaric acid inc (urine) Ammonia normal/inc (blood) Chloride inc (serum) Creatine kinase normal/inc (plasma) D-Glucose normal/dec (serum) L-Lactic acid normal/inc (blood) pH dec (blood) Transaminases (ASAT/ALAT) normal/inc (serum) |
| Symptoms | ataxia hypoglycemia leukoencephalopathy athetosis basal ganglia, changes, lesions, calcifications (MRI, CT) cerebellar atrophy or hypoplasia hepatomegaly (large liver) hyperreflexia liver involvement or dysfunction motor retardation optic atrophy psychomotor retardation seizures white matter changes, abnormalities chorea or athetosis coma dementia developmental delay dystonia failure to thrive mental retardation metabolic acidosis MRI, brain, abnormalities [-] MRI, brain, white matter abnormalities [-] onset, adulthood onset, childhood onset, infancy Organic acids, urine paraparesis/paraplegia paresis respiratory distress small for gestational age (SGA), intrauterine growth retardation (IUGR) speech development, delayed, abnormal |