Severe renal tubulopathy in a newborn due to BCS1L gene mutation: Effects of different treatment modalities on the clinical course

Ezgu F. S., Senaca S., Gunduz M., Turner L., Hasanoglu A., Tiras U., ...More

GENE, vol.528, no.2, pp.364-366, 2013 (SCI-Expanded) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 528 Issue: 2
  • Publication Date: 2013
  • Doi Number: 10.1016/j.gene.2013.07.007
  • Journal Name: GENE
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Page Numbers: pp.364-366
  • Keywords: Mitochondrial disease, Renal tubulopathy, Lactic acidosis, BCS1L gene, COMPLEX-III DEFICIENCY, DISEASE
  • Gazi University Affiliated: Yes


Very early onset Toni-Debre-Fanconi Syndrome, a disorder of proximal renal tubules of the kidney which results in the increased urinary excretion of glucose, amino acids, uric acid, phosphate and bicarbonate, could be the manifestation of various inborn errors. Defects of oxidative phosphorylation are a heterogeneous group of disorders with various clinical presentations. Recently, patients with early liver failure, renal tubulopathy and encephalopathy due to the mutations in the BCS1L gene coding for a structural protein in mitochondria( complex III have been described.