Skip to main content
SpringerLink
Log in

Reversible end-stage renal disease in an adolescent patient with methylmalonic aciduria

  • Letter to the Editors
  • Published:
Pediatric Nephrology Aims and scope Submit manuscript

This is a preview of subscription content, log in via an institution to check access.

Access this article

Log in via an institution

Price excludes VAT (USA)
Tax calculation will be finalised during checkout.

Instant access to the full article PDF.

Institutional subscriptions

Fig. 1.

References

  1. Kolker S, Schwab M, Horster F, Sauer S, Hinz A, Wolf NI, Mayatepek E, Hoffmann GF, Smeitink JA, Okun JG (2003) Methylmalonic acid, a biochemical hallmark of methylmalonic acidurias but no inhibitor of mitochondrial respiratory chain. J Biol Chem 278:47388–47393

    Article  PubMed  Google Scholar 

  2. Okun JG, Horster F, Farkas LM, Feyh P, Hinz A, Sauer S, Hoffmann GF, Unsicker K, Mayatepek E, Kolker S (2002) Neurodegeneration in methylmalonic aciduria involves inhibition of complex II and the tricarboxylic acid cycle, and synergistically acting excitotoxicity. J Biol Chem 277:14674–14680

    CAS  PubMed  Google Scholar 

  3. Van der Meer SB, Poggi F, Spada M, Bonnefont JP, Ogier H, Hubert P, Depondt E, Rapoport D, Rabier D, Charpentier C (1994) Clinical outcome of long-term management of patients with vitamin B12-unresponsive methylmalonic acidemia. J Pediatr 125:903–908

    PubMed  Google Scholar 

  4. Baumgartner ER, Viardot C and 47 colleagues from 39 hospitals from 7 European countries (1995) Long-term follow-up of 77 patients with isolated methylmalonic aciduria. J Inherit Metab Dis 18:138–142

    PubMed  Google Scholar 

  5. Walter JH, Michalski A, Wilson WM, Leonard JV, Barrat TM, Dillon MJ (1989) Chronic renal failure in methylmalonic acidemia. Eur J Pediatr 148:344–348

    CAS  PubMed  Google Scholar 

  6. D’Angio CT, Dillon MJ, Leonard JV (1991) Renal tubular dysfunction in methylmalonic acidaemia. Eur J Pediatr 150:259–263

    PubMed  Google Scholar 

  7. Molteni KH, Oberley TD, Wolff JA, Friedman AL (1991) Progressive renal insufficiency in methylmalonic acidemia. Pediatr Nephrol 5:323–326

    CAS  PubMed  Google Scholar 

  8. Rutledge SL, Geraghty M, Mroczek E, Rosenblatt D, Kohout E (1993) Tubulointerstitial nephritis in methylmalonic acidemia. Pediatr Nephrol 7:81–82

    CAS  PubMed  Google Scholar 

  9. Haffner D, Weinfurth A, Manz F, Schmidt H, Bremer HJ, Mehls O, Scharer K (1999) Long-term outcome of paediatric patients with hereditary tubular disorders. Nephron 83:250–260

    Article  CAS  PubMed  Google Scholar 

Download references

Author information

Authors and Affiliations

  1. Division of Pediatric Nephrology, Department of General Pediatrics, University Children’s Hospital, Heidelberg, Germany

    Claus Peter Schmitt, Otto Mehls & T. Lutz Weber

  2. Division of Inborn Metabolic Diseases, Department of General Pediatrics, University Children’s Hospital, Heidelberg, Germany

    Friederike Hörster & Stefan Kölker

  3. Department of Pediatrics, School of Medicine, University of Tübingen, Reutlingen, Germany

    Friedrich K. Trefz

  4. Division of Pediatric Nephrology, University Children’s Hospital, Im Neuenheimer Feld 150, 69120 Heidelberg, Germany

    Claus Peter Schmitt

Authors
  1. Claus Peter Schmitt
    View author publications

    You can also search for this author in PubMed Google Scholar

  2. Otto Mehls
    View author publications

    You can also search for this author in PubMed Google Scholar

  3. Friedrich K. Trefz
    View author publications

    You can also search for this author in PubMed Google Scholar

  4. Friederike Hörster
    View author publications

    You can also search for this author in PubMed Google Scholar

  5. T. Lutz Weber
    View author publications

    You can also search for this author in PubMed Google Scholar

  6. Stefan Kölker
    View author publications

    You can also search for this author in PubMed Google Scholar

Corresponding author

Correspondence to Claus Peter Schmitt.

Rights and permissions

Reprints and permissions

About this article

Cite this article

Schmitt, C.P., Mehls, O., Trefz, F.K. et al. Reversible end-stage renal disease in an adolescent patient with methylmalonic aciduria. Pediatr Nephrol 19, 1182–1184 (2004). https://doi.org/10.1007/s00467-004-1570-5

Download citation

  • Published:

  • Issue Date:

  • DOI: https://doi.org/10.1007/s00467-004-1570-5

Keywords

Search

Navigation