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

Monica Sciacco, Alessandro Prelle, Gigliola Fagiolari, Andreina Bordoni, Marco Crimi, Alessio Di Fonzo, Patrizia Ciscato, Costanza Lamperti, Elisabetta D'Adda, Stefano Jann, Nereo Bresolin, Giacomo P. Comi, Maurizio Moggio

Research output: Contribution to journalArticle

Abstract

A 45-year-old male patient had an episode of acute renal failure with myoglobinuria, myalgias, weakness, and markedly increased serum CK levels. Similar episodes had occurred in the past. Carnitine palmitoyl-transferase II (CPT II) deficiency was documented both biochemically and genetically. Interestingly, muscle biopsy also showed some ragged red fibers (RRF) and complete mitochondrial DNA (mtDNA) sequence disclosed a homoplasmic T3394C point mutation. This mutation is described in Leber's hereditary optic neuropathy (LHON) or in patients with diabetes mellitus.

Original languageEnglish
Pages (from-to)21-24
Number of pages4
JournalJournal of the Neurological Sciences
Volume239
Issue number1
DOIs
Publication statusPublished - Dec 15 2005

Keywords

  • CPT deficiency
  • Mitochondrial disorder
  • Myoglobinuria
  • RRFs

ASJC Scopus subject areas

  • Ageing
  • Clinical Neurology
  • Surgery
  • Neuroscience(all)
  • Developmental Neuroscience
  • Neurology

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