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Carnitine Palmitoyltransferase 1A Deficiency

Abstract

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NORD is very grateful to Susan Winter, MD, Medical Director of Medical Genetics/Metabolism, Valley Children's Hospital, Madera, California, for assistance in the preparation of this report.

Synonyms of Carnitine Palmitoyltransferase 1A Deficiency

  • CPT 1A Deficiency
  • Hepatic Carnitine Palmitoyltransferase 1 Deficiency
  • Hepatic CPT1
  • L-CPT1 Deficiency

Disorder Subdivisions

  • No subdivisions found.

General Discussion

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.

Carnitine Palmitoyltransferase 1A Deficiency Resources

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