What is 3-hydroxyacyl-coenzyme A dehydrogenase deficiency?

3-hydroxyacyl-coenzyme A dehydrogenase (HADH) deficiency is a rare condition that prevents the body from converting certain fats to energy, particularly during prolonged periods without food (fasting). Normally, through a process called fatty acid oxidation, several enzymes work in a step-wise fashion to break down (metabolize) fats and convert them to energy. People with 3-hydroxyacyl-coenzyme A dehydrogenase deficiency have inadequate levels of an enzyme required for a step that metabolizes groups of fats called medium-chain fatty acids and short-chain fatty acids.

(This disorder is sometimes called medium- and short-chain 3-hydroxyacyl-coenzyme A dehydrogenase (M/SCHAD) deficiency.) Typically, initial signs and symptoms of this disorder occur during infancy or early childhood and can include poor appetite, vomiting, diarrhea, lack of energy (lethargy), low blood sugar (hypoglycemia), muscle weakness (hypotonia), liver problems, and abnormally high levels of insulin ( ... more.

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