LCHAD deficiency

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Disease Overview

Long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency is a rare condition that prevents the body from converting certain fats to energy, particularly during periods without food (fasting).

Signs and symptoms of LCHAD deficiency typically appear during infancy or early childhood and can include feeding difficulties, lack of energy (lethargy), low blood sugar (hypoglycemia), weak muscle tone (hypotonia), liver problems, and abnormalities in the light-sensitive tissue at the back of the eye (retina). Later in childhood, people with this condition may experience muscle pain, breakdown of muscle tissue, and a loss of sensation in their arms and legs (peripheral neuropathy). Individuals with LCHAD deficiency are also at risk for serious heart problems, breathing difficulties, coma, and sudden death.

Problems related to LCHAD deficiency can be triggered when the body is under stress, for example during periods of fasting, illnesses such as viral infections, or weather extremes. 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.

This disease summary is from MedlinePlus Genetics, an online health information resource from the National Institutes of Health.


Synonyms

  • Long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency
  • Long-chain 3-hydroxy acyl CoA dehydrogenase deficiency
  • Long-chain 3-OH acyl-CoA dehydrogenase deficiency
  • 3-hydroxyacyl-CoA dehydrogenase long chain deficiency

For more information, visit GARD.

National Organization for Rare Disorders