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Article

Carnitine palmitoyltransferase II deficiency due to a novel gene variant in a patient with rhabdomyolysis and ARF.

American journal of kidney diseases : the official journal of the National Kidney Foundation - 1 Mar 2005

Kaneoka Hidetoshi, Uesugi Noriko, Moriguchi Ayaka, Hirose Shinichi, Takayanagi Masaki, Yamaguchi Seiji, Shigematsu Yosuke, Yasuno Tetsuhiko, Sasatomi Yoshie, Saito Takao

Abstract excerpt

Adult patients deficient in carnitine palmitoyltransferase II (CPT II) cannot generate sufficient amounts of energy, which results in rhabdomyolysis and acute renal failure (ARF). Its genetic basis has been recognized; but histopathologic changes, especially electron microscopic changes, have scarcely been described. The study subject is a patient with ARF caused by repetitive nontraumatic rhabdomyolysis. The...

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PMID: 15754283
DOI: 10.1053/j.ajkd.2004.12.006

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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