Literature DB >> 18471680

Severe rhabdomyolysis with hypoglycemia in an adult patient with carnitine palmitoyltransferase II deficiency.

M Deutsch1, D Vassilopoulos, N Sevastos, A Papadimitriou, K Vasiliou, A J Archimandritis.   

Abstract

Carnitine palmitoyltransferase II (CPT2) deficiency is an inherited disorder associated with rhabdomyolysis. The adult form of CPT2 deficiency is usually "benign", characterized by episodes of rhabdomyolysis without extramuscular manifestations and with a good outcome, while the infantile type characteristically presents with severe metabolic symptoms such as hypoketotic hypoglycemia. We present here a case of severe rhabdomyolysis with acute renal failure and hypoglycemia in an adult patient with CPT2 deficiency.

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Year:  2008        PMID: 18471680     DOI: 10.1016/j.ejim.2007.04.025

Source DB:  PubMed          Journal:  Eur J Intern Med        ISSN: 0953-6205            Impact factor:   4.487


  3 in total

Review 1.  Delineating the role of alterations in lipid metabolism to the pathogenesis of inherited skeletal and cardiac muscle disorders: Thematic Review Series: Genetics of Human Lipid Diseases.

Authors:  Harjot K Saini-Chohan; Ryan W Mitchell; Frédéric M Vaz; Teresa Zelinski; Grant M Hatch
Journal:  J Lipid Res       Date:  2011-11-07       Impact factor: 5.922

Review 2.  Rhabdomyolysis caused by carnitine palmitoyltransferase 2 deficiency: A case report and systematic review of the literature.

Authors:  Nicholas Ivin; Valentina Della Torre; Francis Sanders; Matthew Youngman
Journal:  J Intensive Care Soc       Date:  2019-12-18

3.  Therapeutic Effects of Procainamide on Endotoxin-Induced Rhabdomyolysis in Rats.

Authors:  Chih-Chin Shih; Hiong-Ping Hii; Cheng-Ming Tsao; Shiu-Jen Chen; Shuk-Man Ka; Mei-Hui Liao; Chin-Chen Wu
Journal:  PLoS One       Date:  2016-02-26       Impact factor: 3.240

  3 in total

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