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carnitine palmitoyltransferase II deficiency

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Disease Overview

Carnitine palmitoyltransferase II (CPT II) deficiency is an inherited metabolic disorder that affects mitochondrial oxidation of long chain fatty acids (LCFA). Three forms of CPT II deficiency have been described: a myopathic form, a severe infantile form and a neonatal form.

Synonyms

  • CPT II deficiency
  • CPT-II
  • CPT2
  • CPTII
  • Carnitine palmitoyltransferase 2 deficiency
  • Carnitine palmitoyltransferase II (CPT II) deficiency
  • Carnitine palmitoyltransferase deficiency type 2
  • carnitine palmitoyltransferase II deficiency
  • infantile carnitine palmitoyltransferase II deficiency
  • late-onset carnitine palmitoyltransferase II deficiency
  • lethal neonatal carnitine palmitoyltransferase II deficiency
GARD Disease Summary

The Genetic and Rare Diseases Information Center (GARD) has information and resources for patients, caregivers, and families that may be helpful before and after diagnosis of this condition. GARD is a program of the National Center for Advancing Translational Sciences (NCATS), part of the National Institutes of Health (NIH).

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Orphanet

Orphanet has a summary about this condition that may include information on the diagnosis, care, and treatment as well as other resources. Some of the information and resources are available in languages other than English. The summary may include medical terms, so we encourage you to share and discuss this information with your doctor. Orphanet is the French National Institute for Health and Medical Research and the Health Programme of the European Union.

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