PMID: 12088089Jun 29, 2002Paper

Combined partial deficiencies of carnitine palmitoyltransferase II and mitochondrial complex I presenting as increased serum creatine kinase level

Journal of Child Neurology
Chang-Yong Tsao, Jerry R Mendell

Abstract

Increased serum creatine kinase level is a marker of neuromuscular disorders. When combined with exercise intolerance, muscle cramps, fatigue, myoglobinuria, or muscle weakness, metabolic myopathies of a variety of causes should be considered. We encountered an adolescent male with a persistently high serum creatine kinase level and chronic fatigue who was found to have combined partial defects of carnitine palmitoyltransferase II and mitochondrial complex I. Metabolic myopathy may present with chronic fatigue and a persistently high serum creatine kinase level but without muscle weakness and may be attributable to combined enzyme defects.

References

Dec 26, 1991·The New England Journal of Medicine·G HugS Soukup
Jan 1, 1990·Pediatric Neurology·C Y Tsao, R D McComb
Nov 20, 1973·Science·S DiMauro, P M DiMauro
Jan 1, 1994·Journal of Child Neurology·C Y TsaoF S Wright
May 1, 1994·Journal of Neuropathology and Experimental Neurology·M K HerrickD S Horoupian
Jun 1, 1994·The Journal of Pediatrics·I TeinR R McInnes
Nov 1, 1993·Archives of Neurology·S DiMauro, C T Moraes
Sep 23, 1997·Biochemical and Biophysical Research Communications·F M SantorelliS DiMauro
Jun 9, 1999·Annals of Neurology·A L AndreuS DiMauro
Sep 30, 1999·The New England Journal of Medicine·A L AndreuS DiMauro
Mar 1, 2000·Journal of Child Neurology·C BrunoS DiMauro
Aug 3, 2000·Muscle & Nerve·G D Vladutiu
Oct 2, 2001·American Journal of Medical Genetics·R H TriepelsJ A Smeitink

Citations

Apr 3, 2008·The Canadian Journal of Neurological Sciences. Le Journal Canadien Des Sciences Neurologiques·Steven K BakerMark Tarnopolsky
Nov 15, 2003·Laboratory Investigation; a Journal of Technical Methods and Pathology·Ellen SigaukeMichael J Bennett
Apr 3, 2008·The Canadian Journal of Neurological Sciences. Le Journal Canadien Des Sciences Neurologiques·Steven K Baker, Imtiaz A Samjoo

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