Long chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency is an inherited condition in which the body lacks sufficient amounts of an enzyme needed to turn certain fatty acids from food and body fat into energy. This process, called fatty acid oxidation, normally breaks down fatty acids stepwise until they can be turned into usable energy. LCHAD deficiency interrupts this process, allowing fatty acids to build up in the body and damage various organs and body tissues.
The symptoms of LCHAD deficiency begin in infancy or early childhood when affected children may display muscle weakness, lack of energy, low blood sugar, liver problems, and difficulty feeding. They are at high risk for life-threatening heart and breathing problems, comas, and seizures, as well as sudden unexplained infant death.
Children with LCHAD deficiency tend to experience symptoms in bouts, followed by periods of seeming normalcy. Repeated episodes, if not properly treated, can cause brain damage, learning disabilities, or mental disability. Periods of fasting, illness, or strenuous exercise can instigate or exacerbate these episodes.
Later in childhood, people with LCHAD often develop muscle pain, a breakdown in muscle tissue, and problems with the nerves in their arms and legs. The disease can also cause damage to the retina of the eye, causing progressive visual impairment over many years.
Pregnant women whose fetuses are affected by LCHAD deficiency are at risk for specific pregnancy complications and should speak with their physician.
LCHAD deficiency is rare. Studies in Finland and the United States have shown that the E474Q mutation—which causes the majority of LCHAD deficiency cases—has a carrier rate of approximately 1 in 150 to 200. Based on a carrier rate estimation of 1 in 150, 1 in 90,000 people would be affected by the disease.
The main method of treatment for LCHAD deficiency is to monitor the diet very carefully. A physician or nutritionist will devise a course of treatment that normally involves frequent meals, often around the clock. There may need to be an additional feeding schedule for times when the person is sick. The diet is often low in fats and high in carbohydrates, which are easier for an affected person to break down. A physician may also prescribe medium chain triglyceride oil, L-carnitine, and/or other supplements for additional energy. People with LCHAD deficiency may need to curtail their exercise or exposure to extreme cold.
With careful monitoring of diet, people with the disease can live long, near-normal lives. Despite careful treatment, they may experience periodic problems in body chemistry that can result in brain damage, learning disabilities, or mental disability as well as problems with the muscles, heart, liver, and/or vision. If untreated, LCHAD deficiency can be fatal.
An all volunteer 501c3 non-profit dedicated to providing support, information and international networking for families affected by a Fatty Oxidation Disorder, as well as for professionals working with FOD families.
Director, Deb Lee Gould, MEd
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Phone: (517) 381-1940 (8am-8pm EST)
Explanations of an extensive number of genetic diseases written for everyday people by the U.S. government's National Institutes of Health.
A fact sheet produced by a collaborative effort among state agencies in Alaska, California, Hawaii, Idaho, Oregon, and Washington to investigate the financial, legal, ethical, and social implications of programs that screen newborns for certain diseases.
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