Literature DB >> 9565984

Very-long-chain acyl-coenzyme A dehydrogenase deficiency in a child with recurrent myoglobinuria.

C Minetti1, B Garavaglia, M Bado, F Invernizzi, C Bruno, M Rimoldi, R Pons, F Taroni, G Cordone.   

Abstract

A 9-year-old boy had recurrent episodes of myoglobinuria and normal urinary organic acid profile. Very-long-chain acyl-coenzyme A dehydrogenase (VLCAD) deficiency was detected biochemically in cultured skin fibroblasts and confirmed by Western blot analysis. The patient had a distinctive plasma fatty-acid profile, which was present even between attacks. Early diagnosis of this disorder is important because of the apparently protective effect of an appropriate dietary regimen.

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Year:  1998        PMID： 9565984     DOI： 10.1016/s0960-8966(97)00121-1

Source DB:  PubMed          Journal:  Neuromuscul Disord        ISSN： 0960-8966            Impact factor:   4.296


  4 in total

1.  Adolescent myopathic presentation in two sisters with very long-chain acyl-CoA dehydrogenase deficiency.

Authors:  B Merinero; S I Pascual Pascual; C Pérez-Cerdá; J Gangoiti; M Castro; M J Garcia; I Pascual Castroviejo; C Vianey-Saban; B Andresen; N Gregersen; M Ugarte
Journal:  J Inherit Metab Dis       Date:  1999-10       Impact factor: 4.982

2.  Clear correlation of genotype with disease phenotype in very-long-chain acyl-CoA dehydrogenase deficiency.

Authors:  B S Andresen; S Olpin; B J Poorthuis; H R Scholte; C Vianey-Saban; R Wanders; L Ijlst; A Morris; M Pourfarzam; K Bartlett; E R Baumgartner; J B deKlerk; L D Schroeder; T J Corydon; H Lund; V Winter; P Bross; L Bolund; N Gregersen
Journal:  Am J Hum Genet       Date:  1999-02       Impact factor: 11.025

Review 3.  Inborn errors of energy metabolism associated with myopathies.

Authors:  Anibh M Das; Ulrike Steuerwald; Sabine Illsinger
Journal:  J Biomed Biotechnol       Date:  2010-05-26

4.  Rhabdomyolysis in a neonate due to very long chain acyl CoA dehydrogenase deficiency.

Authors:  Jessica Scott Schwoerer; Gena Cooper; Sandra van Calcar
Journal:  Mol Genet Metab Rep       Date:  2015-03-30
  4 in total

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