LCHAD deficiency

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LCHAD Deficiency

LCHAD deficiency (pronounced el-kay-hay-dee deficiency), also known as Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency, is a rare genetic disorder that prevents the body from converting certain fats into energy, particularly during periods of fasting.

Etymology

The term LCHAD is an acronym derived from Long-chain 3-hydroxyacyl-CoA dehydrogenase, which is the enzyme that is deficient in individuals with this condition.

Symptoms

The most common symptoms of LCHAD deficiency include hypoglycemia, muscle weakness, fatigue, and cardiomyopathy. In severe cases, it can lead to life-threatening complications such as liver disease and heart failure.

Causes

LCHAD deficiency is caused by mutations in the HADHA gene. This gene provides instructions for making a protein that is essential for breaking down fats in the body. Mutations in the HADHA gene disrupt the function of this protein, leading to the symptoms of LCHAD deficiency.

Diagnosis

Diagnosis of LCHAD deficiency typically involves genetic testing to identify mutations in the HADHA gene. Other diagnostic tests may include blood tests, urine tests, and tissue biopsy.

Treatment

Treatment for LCHAD deficiency typically involves a special diet that is low in long-chain fats and high in carbohydrates. This diet helps to prevent hypoglycemia and provide the body with an alternative source of energy. In some cases, individuals with LCHAD deficiency may also require supplements to replace certain fats that cannot be broken down by the body.

See also

External links

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