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Case Reports
. 2018 Mar 6:15:69-70.
doi: 10.1016/j.ymgmr.2018.02.008. eCollection 2018 Jun.

Recurrent rhabdomyolysis caused by carnitine palmitoyltransferase II deficiency, common but under-recognised: Lessons to be learnt

M Balasubramanian  1 , T M Jenkins  2 , R J Kirk  3 , I M Nesbitt  3 , S E Olpin  3 , M Hill  4 , G T Gillett  4
Affiliations
Case Reports

Recurrent rhabdomyolysis caused by carnitine palmitoyltransferase II deficiency, common but under-recognised: Lessons to be learnt

M Balasubramanian et al. Mol Genet Metab Rep. .

Abstract

We discuss two adult siblings who presented with symptoms of myalgia and rhabdomyolysis following exercise with myoglobinuria; genetic testing confirmed carnitine palmitoyltransferase II deficiency and resulted in institution of appropriate crisis management and dietary advice. We explore the phenotypic variability of this commonest fatty oxidation defect that remains under-diagnosed in the adult population and provide clues for early recognition and diagnosis.

Keywords: Autosomal recessive; CPT II deficiency; Dietary advice; Genetic counselling; Myoglobinuria; Myopathy; Rhabdomyolysis.

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References

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