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

  title={A secondary respiratory chain defect in a patient with Fanconi–Bickel syndrome},
  author={M. H. Odi{\`e}vre and Anne Lombes and Philippe Dessemme and Ren{\'e} Santer and Mich{\`e}le Brivet and Bertrand Chevallier and B. Lagard{\`e}re},
  journal={Journal of Inherited Metabolic Disease},
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… CONTINUE READING


Publications citing this paper.
Showing 1-8 of 8 extracted citations


Publications referenced by this paper.
Showing 1-10 of 25 references

Glucose transporters: Structure, function and consequences of deficiency

Journal of Inherited Metabolic Disease • 2000
View 7 Excerpts
Highly Influenced

Facilitative glucose transporters.

European journal of biochemistry • 1994
View 7 Excerpts
Highly Influenced

cells of patients with Fanconi’s syndrome

M Brivet, N Moatti, A Corriat, A Lemonnier, M Odie' vre
Arch Dis Child • 1983
View 11 Excerpts
Highly Influenced

Biochemical and molecular investigations in respiratory chain deficiencies.

Clinica chimica acta; international journal of clinical chemistry • 1994
View 1 Excerpt

Similar Papers

Loading similar papers…