2 4 dienoyl CoA reductase deficiency (Progressive encephalopathy with leukodystrophy due to DECR deficiency)

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

  1. Progressive encephalopathy with leukodystrophy due to DECR deficiency
  2. DECR deficiency with hyperlysinemia

Prevalence

<1 / 1000000

Age of onset

  1. Infancy
  2. 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

  1. Lysine restriction, pyridoxal phosphate, and certain mitochondrial enzyme cofactors, such as thiamine and biotin
  2. NADH Supplementation
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