What is LCHAD?

Short Answer:

LCHAD is a rare metabolic disorder that prevents the body from using fat for energy.  The treatment is a low fat diet and eating often.

Many people have asked me if you outgrow LCHAD or if LCHAD can be cured.  The answer is no on both counts.

LCHAD is an autosomal recessive disorder which means two abnormal genes are passed to you from your parents (1 from each parent) .  You cannot “catch” LCHAD, it is inherited.

Long Answer:

“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 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.”

Retrieved from http://ghr.nlm.nih.gov/condition/long-chain-3-hydroxyacyl-coa-dehydrogenase-deficiency on 5/2/2011