2,4 Dienoyl-CoA reductase deficiency

2,4 Dienoyl-CoA Reductase Deficiency

2,4 Dienoyl-CoA Reductase Deficiency is a rare metabolic disorder that affects the breakdown of certain fatty acids in the body. This condition is caused by a deficiency in the enzyme 2,4-dienoyl-CoA reductase, which is essential for the beta-oxidation of unsaturated fatty acids.

Pathophysiology

The enzyme 2,4-dienoyl-CoA reductase plays a critical role in the mitochondrial beta-oxidation pathway, specifically in the metabolism of unsaturated fatty acids with double bonds at even-numbered positions. In individuals with this deficiency, the inability to properly metabolize these fatty acids leads to the accumulation of intermediate metabolites, which can be toxic and disrupt normal cellular function.

Clinical Presentation

Patients with 2,4 dienoyl-CoA reductase deficiency typically present with symptoms in infancy or early childhood. Common clinical features include:

• Hypotonia
• Developmental delay
• Failure to thrive
• Hepatomegaly
• Cardiomyopathy

Diagnosis

Diagnosis of this condition is based on clinical presentation, biochemical testing, and genetic analysis. Biochemical tests may reveal elevated levels of unsaturated fatty acids and their derivatives in the blood and urine. Genetic testing can confirm mutations in the gene encoding the 2,4-dienoyl-CoA reductase enzyme.

Treatment

Management of 2,4 dienoyl-CoA reductase deficiency involves dietary modifications to limit the intake of unsaturated fatty acids and supplementation with medium-chain triglycerides (MCTs), which can be metabolized through an alternative pathway. Supportive care and monitoring for complications such as cardiomyopathy are also important aspects of treatment.

Prognosis

The prognosis for individuals with 2,4 dienoyl-CoA reductase deficiency varies depending on the severity of the enzyme deficiency and the effectiveness of dietary management. Early diagnosis and intervention can improve outcomes and quality of life.

Related Pages

• Metabolic disorder
• Beta-oxidation
• Fatty acid metabolism
• Mitochondrial disease

Gallery

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  Diagram of the dienoyl-CoA reductase reaction.