Warning: Undefined array key "mm" in /www/wwwroot/www.ai-bt.com/si.php on line 10 Deprecated: trim(): Passing null to parameter #1 ($string) of type string is deprecated in /www/wwwroot/www.ai-bt.com/si.php on line 10 Fatal cases of lipid storage myopathy with carnitine deficiency.

Literature DB >> 194020

Fatal cases of lipid storage myopathy with carnitine deficiency.

F Cornelio, S Di Donato, D Peluchetti, A Bizze, B Bertagnolio, A D'Angelo, U Wiesmann.

Abstract

Three patients affected by a progressive myopathy with rapid lethal evolution are presented. Excessive lipid storage was found in type 1 fibres of muscle and in liver, kidney, and myocardium. Carnitine concentrations were markedly reduced in muscle, plasma, and heart, significantly lower in the liver, and normal in kidney. D-L carnitine replacement therapy was ineffective in the only case treated. The relationship of the present cases with the syndrome of lipid storage myopathy and carnitine deficiency is discussed.

Entities: Chemical Disease Species

Mesh：

Substances：
Carnitine

Year: 1977 PMID： 194020 PMCID： PMC492634 DOI： 10.1136/jnnp.40.2.170

Source DB: PubMed Journal: J Neurol Neurosurg Psychiatry ISSN： 0022-3050 Impact factor: 10.154

18 in total

1. Morphological features in a neutral lipid storage disease.

Authors: G Slavin; E J Wills; J E Richmond; I Chanarin; T Andrews; G Stewart
Journal: J Clin Pathol Date: 1975-09 Impact factor: 3.411

2. Neutral-lipid storage disease: a new disorder of lipid metabolism.

Authors: I Chanarin; A Patel; G Slavin; E J Wills; T M Andrews; G Stewart
Journal: Br Med J Date: 1975-03-08

3. ANALYSIS OF HYDROXY FATTY ACIDS BY GAS-LIQUID CHROMATOGRAPHY.

Authors: J S O'BRIEN; G ROUSER
Journal: Anal Biochem Date: 1964-03 Impact factor: 3.365

4. ENZYMOLOGICAL DETERMINATION OF FREE CARNITINE CONCENTRATIONS IN RAT TISSUES.

Authors: N R MARQUIS; I B FRITZ
Journal: J Lipid Res Date: 1964-04 Impact factor: 5.922

5. A simple method for the isolation and purification of total lipides from animal tissues.

Authors: J FOLCH; M LEES; G H SLOANE STANLEY
Journal: J Biol Chem Date: 1957-05 Impact factor: 5.157

6. Protein measurement with the Folin phenol reagent.

Authors: O H LOWRY; N J ROSEBROUGH; A L FARR; R J RANDALL
Journal: J Biol Chem Date: 1951-11 Impact factor: 5.157

7. Myopathy associated with abnormal lipid metabolism in skeletal muscle.

Authors: W G Bradley; P Hudgson; D Gardner-Medwin; J N Walton
Journal: Lancet Date: 1969-03-08 Impact factor: 79.321

8. The syndrome of systemic carnitine deficiency. Clinical, morphologic, biochemical, and pathophysiologic features.

Authors: G Karpati; S Carpenter; A G Engel; G Watters; J Allen; S Rothman; G Klassen; O A Mamer
Journal: Neurology Date: 1975-01 Impact factor: 9.910

9. [Generalised triglyceride lipidosis (triglyceridosis). 1st anatomo-clinical report].

Authors: F Cornelio; A Allegranza; A Bizzi; I Cescon; E Mussini; D Peluchetti
Journal: Rev Neurol (Paris) Date: 1975-09 Impact factor: 2.607

10. Hereditary carnitine deficiency of muscle.

Authors: D H VanDyke; R C Griggs; W Markesbery; S Dimauro
Journal: Neurology Date: 1975-02 Impact factor: 9.910

17 in total

1. Acute treatment-resistant post-partum necrotising myopathy with anti-Ro52/TRIM21 antibodies treated with rituximab.

Authors: Savvas Psarelis; Doros Polydorou; Sophia Corsava; Constantinos Aristotelous
Journal: Rheumatol Int Date: 2015-01-08 Impact factor: 2.631

2. Autosomal recessive lipid storage myopathy (probable carnitine deficiency).

Authors: C Almog; K Fried; R Reif; J Zieghelboim; G Lewinsohn
Journal: J Med Genet Date: 1979-12 Impact factor: 6.318

3. Familial carnitine deficiency: further evidence for autosomal recessive transmission with variable expression.

Authors: E Shahar; N Brand; Y Shapira; V Barash; A Gutman
Journal: J Neurol Neurosurg Psychiatry Date: 1988-02 Impact factor: 10.154

4. [Carnitine deficiency: a treatable cause of cardiomyopathy in children (author's transl)].

Authors: V Regitz; R J Hodach; A L Shug
Journal: Klin Wochenschr Date: 1982-04-15

5. [Diagnostic significance of muscle biopsies in metabolic myopathies. II. Clinical biochemistry].

Authors: T Deufel; I Paetzke; D Pongratz; G Hübner; O H Wieland
Journal: Klin Wochenschr Date: 1984-07-16

6. Systemic carnitine deficiency: benefit of oral carnitine supplements vs. persisting biochemical abnormalities.

Authors: M Duran; J B de Klerk; S K Wadman; H R Scholte; R P Beekman; F G Jennekens
Journal: Eur J Pediatr Date: 1984-08 Impact factor: 3.183

7. 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

8. "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

9. Myopathies due to enzyme deficiencies.

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

10. 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