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2,4 Dienoyl-CoA reductase deficiency

(2 • 4 • die-een-oil • koh-AY • ree-DUHK-tace • di-FISH-uhn-seee)

General Condition Information

Other Names

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

Condition Type

Birth Prevalence

It is unknown how many babies have been born with this very rare condition.

Screening Finding

High levels of C10:2 acylcarnitine with or without high levels of other acylcarnitines

What is 2,4 Dienoyl-CoA reductase deficiency

2,4-Dienoyl-CoA reductase deficiency (DE-RED) is an inherited (genetic) condition that prevents your baby’s body from breaking down certain fats and turning them into energy. If your baby does not make enough energy from fat, substances build up in the blood and can cause serious health problems. There have only been two reported cases of DE-RED.

Newborn Screening and Follow-Up

Condition Details

Treatment and Management

Because there have been only been two known cases of DE-RED, doctors are still learning how best to treat this condition. In the two cases, the children received the following treatments to try to prevent their health problems:

  • Formula low in an amino acid called lysine
  • Carnitine supplements
Date Last Reviewed: