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carnitine palmitoyltransferase 2 deficiency
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:
1) 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
2) a hepatic or hepatocardiomuscular form has been reported in infants
- hypoketotic hypoglycemia
- liver dysfunction
- cardiomyopathy
- sudden death
3) lethal neonatal form
- antenatal with cerebral periventricular cysts & cystic dysplastic kidneys
Laboratory:
- myoglobin in urine: recurrent myoglobinuria
- CPT2 gene mutation
General
carnitine palmitoyltransferase deficiency
Database Correlations
OMIM correlations
References
OMIM :accession 255120