3-hydroxyacyl-coa dehydrogenase deficiency

3-Hydroxyacyl-CoA dehydrogenase deficiency is a rare metabolic disorder that affects the body's ability to oxidize fatty acids to produce energy. This condition is part of a group of disorders known as fatty acid oxidation disorders. It is caused by mutations in the HADH gene, which encodes the enzyme 3-hydroxyacyl-CoA dehydrogenase. This enzyme plays a critical role in the mitochondria, where it is involved in the breakdown of fatty acids during a process called beta-oxidation. When the enzyme is deficient or dysfunctional, the body cannot properly convert certain fats into energy, leading to a buildup of fatty acids and their derivatives.

Symptoms

The symptoms of 3-hydroxyacyl-CoA dehydrogenase deficiency can vary widely among affected individuals. They may include hypoglycemia (low blood sugar), muscle weakness, cardiomyopathy (heart muscle disease), liver dysfunction, and neurological issues. Symptoms often present in infancy or early childhood, although some individuals may not show symptoms until later in life.

Diagnosis

Diagnosis of 3-hydroxyacyl-CoA dehydrogenase deficiency typically involves a combination of clinical evaluation, biochemical tests, and genetic testing. Biochemical tests may show elevated levels of certain fatty acids and their derivatives in the blood and urine. Genetic testing can confirm a diagnosis by identifying mutations in the HADH gene.

Treatment

There is no cure for 3-hydroxyacyl-CoA dehydrogenase deficiency, but the condition can often be managed with dietary modifications and, in some cases, medications. Treatment usually involves a diet low in long-chain fatty acids and rich in carbohydrates to prevent hypoglycemia. In some instances, individuals may require carnitine supplementation to help transport fatty acids into mitochondria for energy production.

Prognosis

The prognosis for individuals with 3-hydroxyacyl-CoA dehydrogenase deficiency varies. With early diagnosis and appropriate management, many affected individuals can lead normal, healthy lives. However, the condition can be life-threatening if not properly managed, particularly in cases where severe hypoglycemia occurs.

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