3-hydroxyacyl-coenzyme A dehydrogenase deficiency
3-hydroxyacyl-coenzyme A dehydrogenase deficiency | |
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Other names | HADH deficiency |
3-hydroxyacyl-coenzyme A dehydrogenase deficiency is a rare condition that prevents the body from converting certain fats to energy, particularly during fasting.
Signs and symptoms
Typically, initial signs and symptoms of this disorder occur during infancy or early childhood and can include poor appetite, vomiting, diarrhea, lethargy, hypoglycemia, hypotonia, liver problems, and hyperinsulinism (high levels of insulin). Insulin controls the amount of sugar that moves from the blood into cells for conversion to energy. Individuals with 3-hydroxyacyl-coenzyme A dehydrogenase deficiency are also at risk for complications such as seizures, life-threatening heart and breathing problems, coma, and sudden unexpected death.
Problems related to 3-hydroxyacyl-coenzyme A 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.
Genetics
Mutations in the HADH gene lead to inadequate levels of an enzyme called
This condition is inherited in an
Diagnosis
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Treatment
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See also
References
- ^ Reference, Genetics Home. "3-hydroxyacyl-CoA dehydrogenase deficiency". Genetics Home Reference. Retrieved 2017-02-27.