Carnitine palmitoyl transferase II deficiency, myopathic form

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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. Reference: Access aggregated data from Orphanet at Orphadata. Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version June 2024

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Carnitine palmitoyl transferase II deficiency, myopathic form?

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Advocacy Organizations

Association Aux Pas du Coeur – Côte d’ivoire

Our organization wants to raise awareness and recognition of rare diseases in Ivory Coast. Our mission is to: Raise awareness and campaign 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 to be able to make a final diagnosis and ensure continuous monitoring of patients easily.

Mississippi Metabolics Foundation

Our mission at Mississippi Metabolics Foundation (MMF) is to advocate, educate, and support families in MS affected by genetic metabolic disorders/inborn errors of metabolism (IEM's). MMF promotes initiatives and further advancements in legislation, education, research, clinical trials, studies, therapies, targeted treatments, and eventual cures for IEM’s and all rare diseases.

MitoAction

MitoAction’s mission is to improve the quality of life for children, adults, and families living with mitochondrial disease through support, education, outreach, advocacy, clinical research initiatives and by granting wishes for children affected by mitochondrial disease.

Project CASK

VISION Project CASK believes in a world free of the life limitations and debilitating effects of CASK gene disorders. ​MISSION To accelerate breakthroughs in research to develop treatments and a cure for CASK gene disorders. ​VALUES Collaboration. Transparency. Urgency.

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Clinical Trials

For a list of clinical trials in this disease area, please click here.