Carnitine palmitoyltransferase I deficiency
Carnitine palmitoyltransferase I deficiency (pronounced as kahr-NEE-teen pal-mi-toyl-transfer-ase one deficiency) is a genetic disorder that prevents the body from converting certain types of fats into energy, particularly during periods of fasting.
Etymology
The term "Carnitine palmitoyltransferase I deficiency" is derived from the name of the enzyme that is lacking in people with this condition. "Carnitine" is derived from the Latin carnus, meaning "flesh", as it was first isolated from meat. "Palmitoyltransferase" refers to the specific type of enzyme that is deficient.
Symptoms
The primary symptoms of Carnitine palmitoyltransferase I deficiency include hypoketotic hypoglycemia, hepatomegaly, and neurologic dysfunction. These symptoms are often triggered by periods of fasting or by illness.
Causes
Carnitine palmitoyltransferase I deficiency is caused by mutations in the CPT1A gene. This gene provides instructions for making an enzyme called carnitine palmitoyltransferase 1, which is essential for the body to utilize certain fats for energy.
Diagnosis
Diagnosis of Carnitine palmitoyltransferase I deficiency typically involves a combination of blood tests, urine tests, and genetic testing to confirm the presence of a mutation in the CPT1A gene.
Treatment
Treatment for Carnitine palmitoyltransferase I deficiency typically involves a special diet that is low in long-chain fats and high in carbohydrates. In some cases, medications may be used to prevent or treat symptoms.
See also
External links
- Medical encyclopedia article on Carnitine palmitoyltransferase I deficiency
- Wikipedia's article - Carnitine palmitoyltransferase I deficiency
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