Literature DB >> 568729

Mitochondria-lipid-glycogen myopathy, hyperlactacidemia, and carnitine deficiency.

S Di Donato, F Cornelio, M R Balestrini, B Bertagnolio, D Peluchetti.   

Abstract

A 25-month-old girl had proximal myopathy, increased blood lactate and pyruvate concentrations, and transient ketoacidosis. Muscle biopsy revealed vacuolar myopathy with accumulation of both lipid and glycogen. Electronmicroscopy also showed abnormalities in the shape, size, and internal structure of muscle mitochondria. Carnitine content of skeletal muscle was reduced. Short-chain and long-chain acyl-carnitines were augmented in both plasma and skeletal muscle. Oral carnitine therapy improved muscle strength.

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Year:  1978        PMID： 568729     DOI： 10.1212/wnl.28.11.1110

Source DB:  PubMed          Journal:  Neurology        ISSN： 0028-3878            Impact factor:   9.910


  11 in total

1.  Muscle pathology in cytochrome c oxidase deficiency.

Authors:  I Nonaka; Y Koga; K Shikura; M Kobayashi; N Sugiyama; E Okino; K Nihei; M Tojo; M Segawa
Journal:  Acta Neuropathol       Date:  1988       Impact factor: 17.088

2.  Cytochrome-C-oxidase deficiency in muscles of a floppy infant without mitochondrial myopathy.

Authors:  M Rimoldi; E Bottacchi; L Rossi; F Cornelio; G Uziel; S Di Donato
Journal:  J Neurol       Date:  1982       Impact factor: 4.849

Review 3.  Mitochondrial myopathies. Clinical, morphological and biochemical aspects.

Authors:  R C Sengers; A M Stadhouders; J M Trijbels
Journal:  Eur J Pediatr       Date:  1984-02       Impact factor: 3.183

4.  Ultrastructural study of the childhood mitochondrial myopathic syndrome associated with lactic acidosis.

Authors:  Y Kobayashi; S Miyabayashi; G Takada; K Narisawa; K Tada; T Y Yamamoto
Journal:  Eur J Pediatr       Date:  1982-09       Impact factor: 3.183

5.  Fatal lipid storage myopathy with deficiency of cytochrome-c-oxidase and carnitine. A contribution to the combined cytochemical-finestructural identification of cytochrome-c-oxidase in longterm frozen muscle.

Authors:  J Müller-Höcker; D Pongratz; T Deufel; J M Trijbels; W Endres; G Hübner
Journal:  Virchows Arch A Pathol Anat Histopathol       Date:  1983

6.  "Carnitine deficient" myopathy and cardiomyopathy with fatal outcome.

Authors:  F Cornelio; S Di Donato; D Testa; M Mora; G Gori; D Peluchetti; M Rimoldi
Journal:  Ital J Neurol Sci       Date:  1980-03

7.  Myopathies due to enzyme deficiencies.

Authors:  F Cornelio; S Di Donato
Journal:  J Neurol       Date:  1985       Impact factor: 4.849

8.  A hereditary case of lipid storage myopathy with carnitine deficiency. Ultrastructural observation of muscle tissue in parents.

Authors:  G Pellegrini; G Scarlato; M Moggio
Journal:  J Neurol       Date:  1980       Impact factor: 4.849

9.  Lipid storage myopathy associated with scoliosis and multiple joint contractures.

Authors:  H Nogami; N Ogasawara; T Kasai; T Oki; S Murachi
Journal:  Acta Neuropathol       Date:  1983       Impact factor: 17.088

10.  [Diagnostic significance of muscle biopsies in metabolic myopathies. I. Myopathology].

Authors:  D Pongratz; G Hübner; T Deufel; I Paetzke; O H Wieland
Journal:  Klin Wochenschr       Date:  1984-07-02
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