Renal transplantation in a 14-year-old girl with vitamin B12-responsive cblA-type methylmalonic acidaemia

D. Coman, J. Huang, S. McTaggart, Osamu Sakamoto, T. Ohura, J. McGill, J. Burke

Research output: Contribution to journalArticlepeer-review

17 Citations (Scopus)

Abstract

Renal tubular dysfunction and chronic renal failure are well recognised complications of methylmalonic acidaemia (MMA) and can occur even in the context of optimal medical metabolic management. Organ transplantation, such as renal and combined liver and renal transplants, have been utilised in the past for children whose disease cannot be managed by conservative medical practices and those with end stage renal disease. Our patient was diagnosed with B12-responsive MMA (subsequently proven to be cblA-type MMA) in the postoperative period following renal transplantation for idiopathic chronic renal failure. She remains well, with excellent graft function and metabolic control 4 years after transplantation. This patient highlights the importance of testing for the inborn errors of metabolism in patients presenting with recurrent acidosis and progressive renal impairment.

Original languageEnglish
Pages (from-to)270-273
Number of pages4
JournalPediatric Nephrology
Volume21
Issue number2
DOIs
Publication statusPublished - 2006 Feb 1

Keywords

  • CblA
  • Chronic renal failure
  • Methylmalonic acidaemia
  • Renal transplant
  • Vitamin B

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Nephrology

Fingerprint Dive into the research topics of 'Renal transplantation in a 14-year-old girl with vitamin B<sub>12</sub>-responsive cblA-type methylmalonic acidaemia'. Together they form a unique fingerprint.

Cite this