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A secondary respiratory chain defect in a patient with Fanconi-Bickel syndrome.

Abstract
A North African boy, the son of consanguineous parents, presented at 8 years of age with hypophosphataemic rickets due to De Toni-Debré-Fanconi syndrome. Hepatomegaly and abnormalities of carbohydrate metabolism were suggestive of Fanconi-Bickel syndrome. This was confirmed by the detection of a mutation within GLUT2, the gene encoding the liver-type facilitative glucose transporter. The study of the respiratory chain revealed a deficiency of complexes I, III and IV in muscle. Mechanisms responsible for an impairment ofmitochondrial function, which we interpret as a secondary phenomenon, are discussed.
AuthorsM H Odièvre, A Lombès, P Dessemme, R Santer, M Brivet, B Chevallier, B Lagardère, M Odièvre
JournalJournal of inherited metabolic disease (J Inherit Metab Dis) Vol. 25 Issue 5 Pg. 379-84 (Sep 2002) ISSN: 0141-8955 [Print] United States
PMID12408187 (Publication Type: Case Reports, Journal Article)
Chemical References
  • Glucose Transporter Type 2
  • Monosaccharide Transport Proteins
  • NAD(P)H Dehydrogenase (Quinone)
  • Electron Transport Complex III
Topics
  • Biopsy
  • Child
  • Cytochrome-c Oxidase Deficiency (diagnosis, genetics)
  • Electron Transport (genetics)
  • Electron Transport Complex III (deficiency)
  • Fanconi Syndrome (diagnosis, genetics, metabolism)
  • Glucose Transporter Type 2
  • Humans
  • Liver (enzymology)
  • Male
  • Mitochondria, Muscle (genetics)
  • Monosaccharide Transport Proteins (genetics)
  • Muscles (enzymology)
  • NAD(P)H Dehydrogenase (Quinone) (deficiency)

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