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Carnitine palmitoyltransferase I deficiency (CPT1A deficiency) is an inherited metabolic condition that prevents the body from converting certain fats (long-chain fatty acids) into energy, particularly during periods without food. Carnitine, a natural substance acquired mostly through the diet, is required by cells to process fats and produce energy. Symptoms of this condition often appear early in life and include low blood sugar (hypoglycemia) and low levels of ketones, which are produced when the body breaks down fat for energy (hypoketotic hypoglycemia). This can lead to a greater risk for loss of consciousness or seizures. People with this disorder typically also have an enlarged liver (hepatomegaly), muscle weakness, nervous system damage, and elevated levels of carnitine in the blood. CPT1A deficiency is caused by mutations in the _CPT1A _gene and is inherited in an autosomal recessive manner. Although there is no cure for CPT1A deficiency, symptoms can be managed using several strategies, such dietary changes and use of fat supplements.
Source: GARD Last updated on 05-01-20
Treatment of CPT1A deficiency usually involves the support of a metabolic specialist and a dietician familiar with CPT1A deficiency. Treatment may differ depending on severity of symptoms and may be lifelong if necessary. Treatment may include:
Children with CPT1A deficiency may require additional care during illness to avoid a metabolic crises. Call your healthcare provider should symptoms of an illness occur such as poor appetite, low energy or excessive sleepiness, vomiting, diarrhea, or fever.
Last updated on 05-01-20
The Newborn Screening Coding and Terminology Guide has information on the standard codes used for newborn screening tests. Using these standards helps compare data across different laboratories. This resource was created by the National Library of Medicine.
Last updated on 04-27-20
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