2,4 Dienoyl-CoA reductase deficiency

2,4 Dienoyl-CoA reductase deficiency is a rare metabolic disorder that affects the body's ability to break down certain fats into energy. This condition is characterized by a deficiency in the enzyme 2,4-dienoyl-CoA reductase, which plays a crucial role in the beta-oxidation of polyunsaturated fatty acids.

Symptoms[edit | edit source]

The symptoms of 2,4 Dienoyl-CoA reductase deficiency can vary widely among affected individuals. They may include hypotonia (low muscle tone), developmental delay, seizures, and failure to thrive. In severe cases, the condition can lead to life-threatening metabolic crises.

Causes[edit | edit source]

2,4 Dienoyl-CoA reductase deficiency is caused by mutations in the NADK2 gene. This gene provides instructions for making an enzyme that is found in mitochondria, the energy-producing centers of cells. The NADK2 enzyme is involved in the process of breaking down dietary fats and converting them into energy.

Diagnosis[edit | edit source]

Diagnosis of 2,4 Dienoyl-CoA reductase deficiency is based on the presence of characteristic clinical features, specialized laboratory testing, and the identification of a mutation in the NADK2 gene.

Treatment[edit | edit source]

There is currently no cure for 2,4 Dienoyl-CoA reductase deficiency. Treatment is symptomatic and supportive, and may include dietary management to avoid fasting and to limit the intake of long-chain fatty acids.

Prognosis[edit | edit source]

The prognosis for individuals with 2,4 Dienoyl-CoA reductase deficiency varies depending on the severity of symptoms. Some individuals may have a relatively mild course with few complications, while others may experience severe, life-threatening metabolic crises.