carnitine palmitoyltransferase 2 deficiency
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Pathology
- disorder of long-chain fatty acid oxidation
- clinical variability attributed to the variable residual enzymatic activity
Genetics
- autosomal recessive
- associated with defects in CPT2
Clinical manifestations
- late-onset, muscular type
- patients are usually young adults
- episodes of muscle pain, stiffness, & rhabdomyolysis
- symptoms are triggered by prolonged exercise, fasting or viral infection
- a hepatic or hepatocardiomuscular form has been reported in infants
- hypoketotic hypoglycemia
- liver dysfunction
- cardiomyopathy
- sudden death
- lethal neonatal form