A secondary respiratory chain defect in a patient with Fanconi-Bickel syndrome.
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.
Odièvre
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MH
Service de Pédiatrie, Hĵpital Ambroise Paré, Boulogne Billancourt, France.
Lombès
A
A
Dessemme
P
P
Santer
R
R
Brivet
M
M
Chevallier
B
B
Lagardère
B
B
Odièvre
M
M
D001706:Biopsy; D002648:Child; D030401:Cytochrome-c Oxidase Deficiency / Q000175:diagnosis / Q000235:genetics; D004579:Electron Transport / Q000235:genetics*; D014450:Electron Transport Complex III / Q000172:deficiency; D005198:Fanconi Syndrome / Q000175:diagnosis / Q000235:genetics* / Q000378:metabolism; D051273:Glucose Transporter Type 2; D006801:Humans; D008099:Liver / Q000201:enzymology; D008297:Male; D008931:Mitochondria, Muscle / Q000235:genetics; D009004:Monosaccharide Transport Proteins / Q000235:genetics*; D009132:Muscles / Q000201:enzymology; D016660:NAD(P)H Dehydrogenase (Quinone) / Q000172:deficiency
D051273:Glucose Transporter Type 2; D009004:Monosaccharide Transport Proteins; D016660:NAD(P)H Dehydrogenase (Quinone); D014450:Electron Transport Complex III