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Definition

An autosomal recessive disorder of mitochondrial long-chain fatty acid oxidation, characterized by recurrent myoglobinuria, episodes of muscle pain, stiffness, and rhabdomyolysis. These symptoms are exacerbated by prolonged exercise, fasting, cold, or viral infection. CPT2DM affects most frequently children or young adults, and severity of attacks is highly variable. Myoglobinuria can cause kidney failure and death.

Acronym

CPT2D

Synonyms

Carnitine palmitoyltransferase 2 deficiency, late-onset
Carnitine palmitoyltransferase II deficiency, adult-onset
Carnitine palmitoyltransferase II deficiency, myopathic
CPT2 deficiency, late-onset
CPT II deficiency, myopathic

 
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