| 2,4-DIENOYL-CoA REDUCTASE DEFICIENCY | |
| 2,4-DIENOYL-CoA REDUCTASE; DECRD | |
|
616034
OMIM = Online Mendelian Inheritance of Men | |
|
431361 | |
| 2,4-dienoyl-CoA reductase | |
| 1.3.1.34 | |
| very rare (<1:1000000) autosomal recessive mutation in the NADK2 gene | |
| Laboratory findings | Proline inc (plasma) L-Lysine inc (urine) Creatine kinase inc (serum) Decadienoylcarnitine (C10:2) inc (blood) Decadienoylcarnitine (C10:2) inc (urine) L-Carnitine dec (serum) L-Lactic acid inc (blood) L-Lactic acid dec (cerebrospinal fluid) L-Lysine inc (plasma) L-Lysine inc (cerebrospinal fluid) Pipecolic acid normal/inc (plasma) |
| Symptoms | respiratory acidosis ataxia cerebral atrophy chorea or athetosis defect of walking, running, rising or climbing dystonia encephalopathy epilepsy eye movements, abnormal failure to thrive lactic acidosis microcephaly (<2 SD for age) nystagmus optic atrophy peripheral neuropathy seizures blindness, visual loss, visual impairment cerebellar atrophy or hypoplasia corpus callosum, agenesis/hypoplasia developmental delay dysmorphism early death feeding difficulties, poor feeding gait disturbance hyperopia hypertonia, spasticity hypotonia intrauterine growth retardation leukodystrophy myelination, incomplete, hypomyelination onset, childhood onset, infancy onset, neonatal ophthalmoplegia vomiting |