Carnitine palmitoyl transferase deficiency with an atypical presentation and ultrastructural mitochondrial abnormalities.

Carnitine palmitoyltransferases 1 and 2: biochemical, molecular and medical aspects

“…Permanent muscle weakness is rare (Gieron and Korthals, 1987;Kieval et al, 1983). A clinical picture suggestive of Kearns-Sayre-like syndrome has been reported in a patient (Carey et al, 1987). A partial CPT2 deficiency has occasionally been considered as a cause of exertional dyspnea (Galdi and Clark, 1989), malignant hyperthermia (Vladutiu et al, 1993), recurrent acute pancreatitis (Tein et al, 1994), central nervous system disorders (seizures, quadriplegia, psychomotor retardation) (Suzuki et al, 1991;Ohtani et al, 1994;Shintani et al, 1995), migraine headache (Kabbouche et al, 2003), or cardiomyopathy (Normand et al, 1979;Sacrez et al, 1982).…”

A case of CPT deficiency, homoplasmic mtDNA mutation and ragged red fibers at muscle biopsy

“…However, the association between CPT II deficiency and RRF at muscle biopsy has been reported in a patient with ophthalmoplegia plus (COX histochemistry was not performed) [6].…”