Carnitine palmitoyltransferase deficiency type 1

Carnitine palmitoyltransferase deficiency (CPT) is an extremely rare genetic disorder of mitochondrial fatty-acid oxidation. Two forms of this genetic defect have been described: CPT-I and CPT-II. CPT-I is a more severe form (hepatocardiomuscular syndrome) associated with onset in infancy. CPT-II is a milder form of muscle disease associated with an adult presentation.


 


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