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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Authors | M H Odièvre, A Lombès, P Dessemme, R Santer, M Brivet, B Chevallier, B Lagardère, M Odièvre |
Journal | Journal of inherited metabolic disease
(J Inherit Metab Dis)
Vol. 25
Issue 5
Pg. 379-84
(Sep 2002)
ISSN: 0141-8955 [Print] United States |
PMID | 12408187
(Publication Type: Case Reports, Journal Article)
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Chemical References |
- Glucose Transporter Type 2
- Monosaccharide Transport Proteins
- NAD(P)H Dehydrogenase (Quinone)
- Electron Transport Complex III
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Topics |
- Biopsy
- Child
- Cytochrome-c Oxidase Deficiency
(diagnosis, genetics)
- Electron Transport
(genetics)
- Electron Transport Complex III
(deficiency)
- Fanconi Syndrome
(diagnosis, genetics, metabolism)
- Glucose Transporter Type 2
- Humans
- Liver
(enzymology)
- Male
- Mitochondria, Muscle
(genetics)
- Monosaccharide Transport Proteins
(genetics)
- Muscles
(enzymology)
- NAD(P)H Dehydrogenase (Quinone)
(deficiency)
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