Literature DB >> 26319173

Metabolic Myoglobinuria.

Emanuele Barca1, Valentina Emmanuele, Salvatore Billi DiMauro.   

Abstract

One large group of hereditary myopathies characterized by recurrent myoglobinuria, almost invariably triggered by exercise, comprises metabolic disorders of two main fuels, glycogen and long-chain fatty acids, or mitochondrial diseases of the respiratory chain. Differential diagnosis is required to distinguish the three conditions, although all cause a crisis of muscle energy. Muscle biopsy may be useful when performed well after the episode of rhabdomyolysis. Molecular genetics is increasingly the diagnostic test of choice to discover the underlying genetic basis.

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Year:  2015        PMID： 26319173     DOI： 10.1007/s11910-015-0590-9

Source DB:  PubMed          Journal:  Curr Neurol Neurosci Rep        ISSN： 1528-4042            Impact factor:   5.081


  70 in total

1.  Muscle glycogenosis due to phosphoglucomutase 1 deficiency.

Authors:  Tanya Stojkovic; John Vissing; François Petit; Monique Piraud; Mette C Orngreen; Grete Andersen; Kristl G Claeys; Claire Wary; Jean-Yves Hogrel; Pascal Laforêt
Journal:  N Engl J Med       Date:  2009-07-23       Impact factor: 91.245

2.  Mutations in LPIN1 cause recurrent acute myoglobinuria in childhood.

Authors:  Avraham Zeharia; Avraham Shaag; Riekelt H Houtkooper; Tareq Hindi; Pascale de Lonlay; Gilli Erez; Laurence Hubert; Ann Saada; Yves de Keyzer; Gideon Eshel; Frédéric M Vaz; Ophry Pines; Orly Elpeleg
Journal:  Am J Hum Genet       Date:  2008-09-25       Impact factor: 11.025

3.  Transient restoration of succinate dehydrogenase activity after rhabdomyolysis in iron-sulphur cluster deficiency myopathy.

Authors:  Gittan Kollberg; Atle Melberg; Elisabeth Holme; Anders Oldfors
Journal:  Neuromuscul Disord       Date:  2010-12-31       Impact factor: 4.296

4.  Hereditary deficiency of lactate dehydrogenase M-subunit.

Authors:  T Kanno; K Sudo; I Takeuchi; S Kanda; N Honda; Y Nishimura; K Oyama
Journal:  Clin Chim Acta       Date:  1980-12-08       Impact factor: 3.786

5.  Caveolinopathy--new mutations and additional symptoms.

Authors:  Ahmed Aboumousa; Jessica Hoogendijk; Richard Charlton; Rita Barresi; Ralf Herrmann; Thomas Voit; Judith Hudson; Mark Roberts; David Hilton-Jones; Michelle Eagle; Kate Bushby; Volker Straub
Journal:  Neuromuscul Disord       Date:  2008-06-25       Impact factor: 4.296

6.  Cardiomyopathy and exercise intolerance in muscle glycogen storage disease 0.

Authors:  Gittan Kollberg; Már Tulinius; Thomas Gilljam; Ingegerd Ostman-Smith; Gun Forsander; Peter Jotorp; Anders Oldfors; Elisabeth Holme
Journal:  N Engl J Med       Date:  2007-10-11       Impact factor: 91.245

7.  Molecular genetic studies of muscle lactate dehydrogenase deficiency in white patients.

Authors:  S Tsujino; S Shanske; A K Brownell; R G Haller; S DiMauro
Journal:  Ann Neurol       Date:  1994-10       Impact factor: 10.422

8.  Clinical and genetic analysis of lipid storage myopathies.

Authors:  Aya Ohkuma; Satoru Noguchi; Hideo Sugie; May Christine V Malicdan; Tokiko Fukuda; Kunio Shimazu; Luis Carlos López; Michio Hirano; Yukiko K Hayashi; Ikuya Nonaka; Ichizo Nishino
Journal:  Muscle Nerve       Date:  2009-03       Impact factor: 3.217

9.  McArdle disease: the mystery of reappearing phosphorylase activity in muscle culture--a fetal isoenzyme.

Authors:  S DiMauro; S Arnold; A Miranda; L P Rowland
Journal:  Ann Neurol       Date:  1978-01       Impact factor: 10.422

10.  Apoptosis and ROS detoxification enzymes correlate with cytochrome c oxidase deficiency in mitochondrial encephalomyopathies.

Authors:  S Di Giovanni; M Mirabella; M Papacci; F Odoardi; G Silvestri; S Servidei
Journal:  Mol Cell Neurosci       Date:  2001-04       Impact factor: 4.314
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  3 in total

1.  Primary Myoglobinuria: Differentiate Myoglobinuria from Hemoglobinuria.

Authors:  Dhiraj J Trivedi; Shrirang P Kulkarni; Rakesh Mudaraddi
Journal:  Indian J Clin Biochem       Date:  2016-08-25

2.  Bi-allelic Truncating Mutations in TANGO2 Cause Infancy-Onset Recurrent Metabolic Crises with Encephalocardiomyopathy.

Authors:  Laura S Kremer; Felix Distelmaier; Bader Alhaddad; Maja Hempel; Arcangela Iuso; Clemens Küpper; Chris Mühlhausen; Reka Kovacs-Nagy; Robin Satanovskij; Elisabeth Graf; Riccardo Berutti; Gertrud Eckstein; Richard Durbin; Sascha Sauer; Georg F Hoffmann; Tim M Strom; René Santer; Thomas Meitinger; Thomas Klopstock; Holger Prokisch; Tobias B Haack
Journal:  Am J Hum Genet       Date:  2016-01-21       Impact factor: 11.025

3.  Exertional rhabdomyolysis: physiological response or manifestation of an underlying myopathy?

Authors:  Renata S Scalco; Marc Snoeck; Ros Quinlivan; Susan Treves; Pascal Laforét; Heinz Jungbluth; Nicol C Voermans
Journal:  BMJ Open Sport Exerc Med       Date:  2016-09-07
  3 in total

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