Carnitine palmitoyl transferase II deficiency, severe infantile form

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Synonyms: CPT2, hepatocardiomuscular form | CPT2, severe infantile form | CPTII, hepatocardiomuscular form | CPTII, severe infantile form | Carnitine palmitoyl transferase II deficiency, hepatocardiomuscular form | Carnitine palmitoyl transferase deficiency type 2, hepatocardiomuscular form | Carnitine palmitoyl transferase deficiency type 2, severe infantile form

The severe infantile form of carnitine palmitoyltransferase II (CPT II) deficiency (see this term) an inherited disorder that affects mitochondrial oxidation of long chain fatty acids (LCFA) is the early-onset form of the disease.

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 Data version June 2024

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Carnitine palmitoyl transferase II deficiency, severe infantile 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’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.

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Clinical Trials

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