| MITOCHONDRIAL SHORT-CHAIN ENOYL-CoA HYDRATASE 1 DEFICIENCY (ECHS1D, SCEH) | |
|
616277
OMIM = Online Mendelian Inheritance of Men | |
|
255241 | |
| short-chain enoyl-CoA hydratase | |
| EC 4.2.1.17 | |
| rare autosomal recessive mutation in the ECHS1 gene | |
| Laboratory findings | S-2-carboxypropyl-cysteamine inc (urine) S-2-carboxypropyl-cysteine inc (urine) 3-Methylglutaconic acid inc (urine) 2-Methyl-2,3-dihydroxybutyric acid normal/inc (urine) 2-Oxoisocaproic acid normal/inc (urine) 2-Oxoisovaleric acid normal/inc (urine) 3-Hydroxyisovaleric acid inc (urine) Alanine inc (plasma) Alanine inc (cerebrospinal fluid) Glyoxylic acid inc (urine) L-Lactic acid inc (plasma) L-Lactic acid inc (cerebrospinal fluid) L-Lactic acid inc (urine) Pyruvic acid inc (cerebrospinal fluid) |
| Symptoms | apnea basal ganglia, changes, lesions, calcifications (MRI, CT) cardiomyopathy cardiomyopathy, dilated cerebral atrophy developmental delay dyskinesia dysmorphism dystonia early death encephalopathy epilepsy hearing defect, deafness hepatomegaly (large liver) hypertonia, spasticity hypospadia hypotonia intellectual disability/intellectual developmental disorder intrauterine growth retardation lactic acidosis Leigh syndrome leukoencephalopathy metabolic acidosis motor retardation MRI, brain, abnormalities [-] nystagmus oligohydramnion (maternal) onset, infancy onset, neonatal optic atrophy prematurity, premature delivery seizures splenomegaly (large spleen) |