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What is 2 4 dienoyl CoA reductase deficiency (Progressive encephalopathy with leukodystrophy due to DECR deficiency)
2 4 dienoyl CoA reductase deficiency is a rare mitochondrial disease due to Decreased activity of NADPH resulting in nadph deficiency
This condition is caused by homozygous mutation in the NADK2 gene on chromosome 5p13.
Synonyms
- Progressive encephalopathy with leukodystrophy due to DECR deficiency
- DECR deficiency with hyperlysinemia
Prevalence
<1 / 1000000
Age of onset
- Infancy
- Neonatal
Symptoms of 2 4 dienoyl CoA reductase deficiency
- Abnormal basal ganglia MRI signal intensity
- Abnormal involuntary eye movements
- Abnormality of carnitine metabolism
- Aspiration pneumonia
- Central sleep apnea
- Cerebellar atrophy
- Cerebral visual impairment
- Choreoathetosis
- Decreased activity of NADPH oxidase
- Decreased plasma carnitine
- Dystonia
- Failure to thrive
- Global developmental delay
- Hyperlysinemia
- Hypoplasia of the corpus callosum
- Leukodystrophy
- Microcephaly
- Neonatal hypotonia
- Nonprogressive cerebellar ataxia
- Nystagmus
- Organic aciduria
- Pancreatitis
- Progressive encephalopathy
- Progressive spastic quadriplegia
- Renal tubular acidosis
- Seizures
- Stress/infection-induced lactic acidosis
- Ventriculomegaly
Prognosis
Prognosis is favorable with treatment
Treatment of 2 4 dienoyl CoA reductase deficiency
- Lysine restriction, pyridoxal phosphate, and certain mitochondrial enzyme cofactors, such as thiamine and biotin
- NADH Supplementation