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A secondary respiratory chain defect in a patient with Fanconi-Bickel syndrome
M H Odièvre1, A Lombès, P Dessemme
1Service de Pédiatrie, Hĵpital Ambroise Paré, Boulogne Billancourt, France.
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.
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