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

doi:10.1016/j.jns.2005.07.008

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 journal › Article › peer-review

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 language	English
Pages (from-to)	21-24
Number of pages	4
Journal	Journal of the Neurological Sciences
Volume	239
Issue number	1
DOIs	https://doi.org/10.1016/j.jns.2005.07.008
Publication status	Published - 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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10.1016/j.jns.2005.07.008

Cite this

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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",

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doi = "10.1016/j.jns.2005.07.008",

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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

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

Abstract

Keywords

ASJC Scopus subject areas

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