Literature DB >> 12227461

Very long-chain acyl-CoA dehydrogenase deficiency in an infant presenting with massive hepatomegaly.

R G Boles1.   

Abstract

A 9-month-old boy with presented generalised hypotonia, severe cardiomyopathy, and massive liver enlargement following 10 days of viral gastroenteritis. He was diagnosed with very long-chain acyl-CoA dehydrogenase deficiency and has been successfully treated.

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Year:  2002        PMID： 12227461     DOI： 10.1023/a:1016554409214

Source DB:  PubMed          Journal:  J Inherit Metab Dis        ISSN： 0141-8955            Impact factor:   4.982


  3 in total

1.  Clinical and molecular heterogeneity in very-long-chain acyl-coenzyme A dehydrogenase deficiency.

Authors:  R Pons; P Cavadini; S Baratta; F Invernizzi; E Lamantea; B Garavaglia; F Taroni
Journal:  Pediatr Neurol       Date:  2000-02       Impact factor: 3.372

Review 2.  Recognition and management of fatty acid oxidation defects: a series of 107 patients.

Authors:  J M Saudubray; D Martin; P de Lonlay; G Touati; F Poggi-Travert; D Bonnet; P Jouvet; M Boutron; A Slama; C Vianey-Saban; J P Bonnefont; D Rabier; P Kamoun; M Brivet
Journal:  J Inherit Metab Dis       Date:  1999-06       Impact factor: 4.982

3.  Biochemical diagnosis of fatty acid oxidation disorders by metabolite analysis of postmortem liver.

Authors:  R G Boles; S K Martin; M G Blitzer; P Rinaldo
Journal:  Hum Pathol       Date:  1994-08       Impact factor: 3.466
  3 in total

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