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A secondary respiratory chain defect in a patient with Fanconi–Bickel syndrome
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A secondary respiratory chain defect in a patient with Fanconi–Bickel syndrome
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Journal Article
A secondary respiratory chain defect in a patient with Fanconi–Bickel syndrome
2002
Overview
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 of mitochondrial function, which we interpret as a secondary phenomenon, are discussed.
Publisher
Kluwer Academic Publishers,Springer,Blackwell Publishing Ltd
Subject
/ Biological and medical sciences
/ Biopsy
/ Carbohydrates (enzymatic deficiencies). Glycogenosis
/ Child
/ Cytochrome-c Oxidase Deficiency - diagnosis
/ Cytochrome-c Oxidase Deficiency - genetics
/ Electron Transport - genetics
/ Electron Transport Complex III - deficiency
/ Fanconi Syndrome - diagnosis
/ Fanconi Syndrome - metabolism
/ Humans
/ Male
/ Mitochondria, Muscle - genetics
/ Monosaccharide Transport Proteins - genetics
