Carnitine palmitoyltransferase II deficiency, late-onset

Common Name(s)

Carnitine palmitoyltransferase II deficiency, late-onset

Carnitine palmitoyltransferase II deficiency is the most common inherited disorder of mitochondrial long-chain fatty acid oxidation. The most common 'classic' myopathic form occurs in young adults and is characterized by recurrent episodes of rhabdomyolysis triggered by prolonged exercise, fasting, or febrile illness ({27:Thuillier et al., 2003}). See also the lethal neonatal ({608836}) and infantile ({600649}) forms of the disorder, which are also caused by mutation in the CPT2 gene.
 

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Carnitine palmitoyltransferase II deficiency, late-onset" for support, advocacy or research.

There are currently no organizations listed in Disease InfoSearch that support this condition. Create a listing.

 

 

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Scientific Literature

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Research articles describe the outcome of a single study. They are the published results of original research.
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Symptoms, Diagnosis, and Treatment

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Clinical Trial Information This information is provided by ClinicalTrials.gov

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