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

@article{Odivre2002ASR,
  title={A secondary respiratory chain defect in a patient with Fanconi–Bickel syndrome},
  author={M. H. Odi{\`e}vre and Anne Lombes and Philippe Dessemme and Ren{\'e} Santer and Mich{\`e}le Brivet and Bertrand Chevallier and B. Lagard{\`e}re},
  journal={Journal of Inherited Metabolic Disease},
  year={2002},
  volume={25},
  pages={379-384}
}
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… CONTINUE READING

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