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Carnitine palmitoyltransferase IA deficiency (CPT1A deficiency) is an inherited disease in which the body cannot process long-chain fatty acids (a type of fat) and turn them into energy. Symptoms occur in severe episodes, often during long periods without eating and/or during times of fever or gastrointestinal illness.
A key symptom of the disease is low blood sugar (hypoglycemia) combined with low blood levels of ketones, a by-product of fat breakdown which is used for energy. Together, these symptoms are known as hypoketotic hypoglycemia. Prolonged periods of hypoketotic hypoglycemia can lead to loss of consciousness or seizures.
Other symptoms of CPT1A deficiency include an enlarged liver, muscle weakness, and damage to the liver, heart, and brain due to excess fatty-acid buildup. If untreated, the disease can be life-threatening.
Pregnant women whose fetus has CPT1A deficiency (and therefore is herself a carrier of CPT1A deficiency) are at risk of developing a complication called fatty liver of pregnancy. This can cause nausea, abdominal pain, fatigue, and frequent thirst and urination. It is potentially life-threatening and requires aggressive treatment.
Symptoms of CPT1A deficiency usually begin in infancy, but in some cases they appear later in life.
CPT1A deficiency is extremely rare. Fewer than 50 cases have been identified worldwide. The disease is thought to be more common among Hutterite people in the northern United States and Canada as well as the Inuit people of northern Canada, Alaska, and Greenland.
A key goal of treatment is to combat low blood sugar (hypoglycemia). A physician will recommend a modified diet, typically with high-carbohydrate, low-fat foods. Infants will need to eat frequently during the day. A corn starch solution consumed regularly overnight will provide a slow release of energy that prevents blood sugar from dipping to dangerously low levels. People with CPT1A deficiency should never go long periods without eating.
When hypoglycemia does occur, it needs to be quickly treated with an intravenous sugar solution in order to prevent damage to the brain.
Women who are carriers of CPT1A deficiency and become pregnant should undergo testing for liver enzyme levels, especially during times of fasting or illness.
After fasting or illness, people with CPT1A deficiency are at risk for life-threatening liver failure. These episodes can also cause permanent damage to the brain and liver. However when the disease is carefully managed, people with CPT1A deficiency can live fairly normal lives.
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
PO Box 54
Okemos, MI 48805-0054
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.