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2,4-DIENOYL-CoA REDUCTASE DEFICIENCY

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
5p13.2
G31.8
very rare (<1:1000000)
autosomal recessive
mutation in the NADK2 gene
Laboratory findingsProline 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