Carnitine palmitoyl transferase II deficiency, myopathic form
Synonyms: CPT2, adult-onset form | CPT2, myopathic form | CPTII, adult-onset form | CPTII, myopathic form | Carnitine palmitoyl transferase II deficiency, adult-onset form | Carnitine palmitoyl transferase deficiency type 2, adult-onset form | Carnitine palmitoyl transferase deficiency type 2, myopathic form
The myopathic form of carnitine palmitoyltransferase II (CPT II) deficiency an inherited metabolic disorder that affects mitochondrial oxidation of long chain fatty acids (LCFA) is the most common and the least severe form of CPT II deficiency (see this term).
Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http: //www.orphadata.org. Data version September 2023.
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Carnitine palmitoyl transferase II deficiency, myopathic form?
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Association Aux Pas du Coeur
Our organization wants to raise awareness and recognize rare diseases in Côte d'Ivoire. Our mission is to: Raising awareness and campaigning to help with the diagnosis and free therapeutic care of patients. Request and/or contribute to actions relating to the training of the medical profession so that doctors are able to make a final diagnosis and ensure the continuous follow-up of patients. Create a patient registry to establish very precise statistics of rare diseases in Côte d'Ivoire. Create a close-knit patient community. Break the isolation and despair of sick people and their families. Open up to the world and actively contribute to international research aimed at treatments.
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Curing single-gene disorders
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