It is possible that the main title of the report Carnitine Palmitoyltransferase 1A Deficiency is not the name you expected. Please check the synonyms listing to find the alternate name(s) and disorder subdivision(s) covered by this report.
- Hepatic CPT1
- CPT 1A Deficiency
- Hepatic Carnitine Palmitoyltransferase 1 Deficiency
- L-CPT1 Deficiency
Carnitine palmitoyltransferase 1A deficiency (CPT1A) is characterized by a sudden onset of liver failure and damage to the nervous system resulting from liver failure (hepatic encephalopathy), usually associated with fasting or illness. CPT1A deficiency is caused by an abnormality (mutation) in the CPT1A gene that results in the production of an abnormally functioning carnitine palmitoyltransferase 1 enzyme and decreased metabolism of long-chain fatty acids. CPT1A deficiency is inherited as an autosomal recessive genetic disorder.
CLIMB (Children Living with Inherited Metabolic Diseases)
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Muscular Dystrophy Association
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NIH/National Institute of Diabetes, Digestive & Kidney Diseases
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FOD (Fatty Oxidation Disorders) Family Support Group
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Genetic and Rare Diseases (GARD) Information Center
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Last Updated: 3/31/2008
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