Rare Disease Database

Rare Disease Database

2,4-Dienoyl-CoA reductase deficiency

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Disease Overview

2,4-Dienoyl-CoA reductase deficiency is associated with hypotonia and respiratory acidosis in infancy. This condition may be associated with the DECR1 gene and likely has an autosomal recessive pattern of inheritance.[2160]

Synonyms

  • Dienoyl-CoA reductase deficiency
  • 2,4-alpha dienoyl-CoA reductase deficiency

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