SCHAD deficiency

3-alpha hydroxyacyl-CoA dehydrogenase deficiency, M/SCHADD, Medium/short chain 3-hydroxyacyl CoA dehydrogenase deficiency, 3-hydroxylacyl-CoA dehydrogenase deficiency, Medium and short chain 3-hydroxyacyl-CoA dehydrogenase deficiency, HADH deficiency, 3-alpha-hydroxyacyl-coenzyme A dehydrogenase deficiency, 3-hydroxyacyl-coenzyme A dehydrogenase deficiency, Deficiency of 3-hydroxyacyl-CoA dehydrogenase, HADHSC deficiency, L-3-alpha-hydroxyacyl-CoA dehydrogenase, short chain, deficiency, Medium/short-chain L-3-hydroxyacyl-CoA dehydrogenase deficiency

Overview

Type of disease: Genetic, autosomal recessive | Rare Condition or Disease

3-hydroxyacyl-CoA dehydrogenase deficiency is a rare condition that prevents the body from converting certain fats to energy, particularly during prolonged periods without food (fasting). Initial signs and symptoms of this disorder typically occur during infancy or early childhood and can include poor appetite, vomiting, diarrhea, and lack of energy (lethargy). Affected individuals can also have muscle weakness (hypotonia), liver problems, low blood sugar (hypoglycemia), and abnormally high levels of insulin (hyperinsulinism). Insulin controls the amount of sugar that moves from the blood into cells for conversion to energy. Individuals with 3-hydroxyacyl-CoA dehydrogenase deficiency are also at risk for complications such as seizures, life-threatening heart and breathing problems, coma, and sudden death. This condition may explain some cases of sudden infant death syndrome (SIDS), which is defined as unexplained death in babies younger than 1 year. Problems related to 3-hydroxyacyl-CoA dehydrogenase deficiency can be triggered by periods of fasting or by illnesses such as viral infections. This disorder is sometimes mistaken for Reye syndrome, a severe disorder that may develop in children while they appear to be recovering from viral infections such as chicken pox or flu. Most cases of Reye syndrome are associated with the use of aspirin during these viral infections.

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