Dienoyl-CoA reductase deficiency

Dienoyl-CoA Reductase Deficiency

Dienoyl-CoA reductase deficiency is a rare metabolic disorder that affects the body's ability to break down certain types of fatty acids. This condition is part of a group of disorders known as fatty acid oxidation disorders.

Pathophysiology

Dienoyl-CoA reductase is an enzyme involved in the beta-oxidation of unsaturated fatty acids. Specifically, it catalyzes the reduction of dienoyl-CoA intermediates to trans-3-enoyl-CoA, which can then be further processed in the mitochondrial fatty acid oxidation pathway. In individuals with dienoyl-CoA reductase deficiency, this enzymatic step is impaired, leading to the accumulation of unsaturated fatty acid intermediates and a subsequent energy production deficit.

Clinical Presentation

Patients with dienoyl-CoA reductase deficiency may present with a variety of symptoms, which can include:

• Hypoglycemia
• Muscle weakness
• Cardiomyopathy
• Hepatomegaly
• Developmental delay

The severity and onset of symptoms can vary widely among affected individuals.

Diagnosis

Diagnosis of dienoyl-CoA reductase deficiency typically involves a combination of clinical evaluation, biochemical testing, and genetic analysis. Key diagnostic steps include:

• Measurement of plasma acylcarnitines, which may show elevated levels of specific unsaturated fatty acid intermediates.
• Genetic testing to identify mutations in the gene encoding dienoyl-CoA reductase.

Treatment

There is currently no cure for dienoyl-CoA reductase deficiency, and treatment is primarily supportive. Management strategies may include:

• Dietary modifications to avoid fasting and reduce the intake of long-chain fatty acids.
• Supplementation with medium-chain triglycerides (MCTs), which can be metabolized via an alternative pathway.
• Monitoring and management of metabolic crises.

Prognosis

The prognosis for individuals with dienoyl-CoA reductase deficiency varies depending on the severity of the condition and the effectiveness of management strategies. Early diagnosis and intervention can improve outcomes.

Research and Future Directions

Research into dienoyl-CoA reductase deficiency is ongoing, with efforts focused on better understanding the molecular mechanisms of the disorder and developing targeted therapies. Advances in gene therapy and enzyme replacement therapy hold potential for future treatment options.

See Also

• Fatty Acid Oxidation Disorders
• Metabolic Disorders
• Genetic Testing

==

NIH genetic and rare disease info

• NIH info on Dienoyl-CoA reductase deficiency

Dienoyl-CoA reductase deficiency is a rare disease.