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

• Published in: Journal of inherited metabolic disease Vol. 25; no. 5; pp. 379 - 384
• Main Authors: Odièvre, M. H., Lombès, A., Dessemme, P., Santer, R., Brivet, M., Chevallier, B., Lagardère, B., Odièvre, M.
• Format: Journal Article
• Language: English
• Published: Dordrecht Kluwer Academic Publishers 01.09.2002; Springer; Blackwell Publishing Ltd
• Subjects: Aminoacid disorders; 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; Errors of metabolism; Fanconi Syndrome - diagnosis; Fanconi Syndrome - genetics; Fanconi Syndrome - metabolism; Glucose Transporter Type 2; Humans; Liver - enzymology; Male; Medical sciences; Metabolic diseases; Mitochondria, Muscle - genetics; Monosaccharide Transport Proteins - genetics; Muscles - enzymology; NAD(P)H Dehydrogenase (Quinone) - deficiency; Tropical medicine; Algeria; Africa; Diseases of the osteoarticular system; Tubulopathy; Hepatic disease; De Toni Debre Fanconi syndrome; Male; Bone disease; Glucose; Hypophosphatemic rickets; Genetic determinism; Gene; Hepatomegaly; Vitamin D; Complication; Carbohydrate; Child; Carrier protein; Aminoacid disorder; Human; Kidney disease; Urinary system disease; Metabolic diseases; Genetic disease; Case study; Concomitant disease; Vitamin resistant rickets; Digestive diseases; Mutation; Aminoaciduria
• ISSN: 0141-8955; 1573-2665
• DOI: 10.1023/A:1020147716990

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.