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

10 Citations (Scopus)

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

Fingerprint

Slow-Twitch Muscle Fibers
Mitochondrial DNA
Myoglobinuria
Leber's Hereditary Optic Atrophy
Biopsy
Mutation
Carnitine
Myalgia
Transferases
Point Mutation
Acute Kidney Injury
Diabetes Mellitus
Muscles
Serum

Keywords

  • CPT deficiency
  • Mitochondrial disorder
  • Myoglobinuria
  • RRFs

ASJC Scopus subject areas

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

Cite this

A case of CPT deficiency, homoplasmic mtDNA mutation and ragged red fibers at muscle biopsy. / Sciacco, Monica; Prelle, Alessandro; Fagiolari, Gigliola; Bordoni, Andreina; Crimi, Marco; Di Fonzo, Alessio; Ciscato, Patrizia; Lamperti, Costanza; D'Adda, Elisabetta; Jann, Stefano; Bresolin, Nereo; Comi, Giacomo P.; Moggio, Maurizio.

In: Journal of the Neurological Sciences, Vol. 239, No. 1, 15.12.2005, p. 21-24.

Research output: Contribution to journalArticle

@article{00d2c1bf8b3a452392f7b66be724c2b0,
title = "A case of CPT deficiency, homoplasmic mtDNA mutation and ragged red fibers at muscle biopsy",
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.",
keywords = "CPT deficiency, Mitochondrial disorder, Myoglobinuria, RRFs",
author = "Monica Sciacco and Alessandro Prelle and Gigliola Fagiolari and Andreina Bordoni and Marco Crimi and {Di Fonzo}, Alessio and Patrizia Ciscato and Costanza Lamperti and Elisabetta D'Adda and Stefano Jann and Nereo Bresolin and Comi, {Giacomo P.} and Maurizio Moggio",
year = "2005",
month = "12",
day = "15",
doi = "10.1016/j.jns.2005.07.008",
language = "English",
volume = "239",
pages = "21--24",
journal = "Journal of the Neurological Sciences",
issn = "0022-510X",
publisher = "Elsevier",
number = "1",

}

TY - JOUR

T1 - A case of CPT deficiency, homoplasmic mtDNA mutation and ragged red fibers at muscle biopsy

AU - Sciacco, Monica

AU - Prelle, Alessandro

AU - Fagiolari, Gigliola

AU - Bordoni, Andreina

AU - Crimi, Marco

AU - Di Fonzo, Alessio

AU - Ciscato, Patrizia

AU - Lamperti, Costanza

AU - D'Adda, Elisabetta

AU - Jann, Stefano

AU - Bresolin, Nereo

AU - Comi, Giacomo P.

AU - Moggio, Maurizio

PY - 2005/12/15

Y1 - 2005/12/15

N2 - 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.

AB - 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.

KW - CPT deficiency

KW - Mitochondrial disorder

KW - Myoglobinuria

KW - RRFs

UR - http://www.scopus.com/inward/record.url?scp=27744446374&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=27744446374&partnerID=8YFLogxK

U2 - 10.1016/j.jns.2005.07.008

DO - 10.1016/j.jns.2005.07.008

M3 - Article

C2 - 16168441

AN - SCOPUS:27744446374

VL - 239

SP - 21

EP - 24

JO - Journal of the Neurological Sciences

JF - Journal of the Neurological Sciences

SN - 0022-510X

IS - 1

ER -