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

Coman D., Huang J., McTaggart S., Sakamoto O., Ohura T., McGill J. and Burke J. (2006) Renal transplantation in a 14-year-old girl with vitamin B12-responsive cblA-type methylmalonic acidaemia. Pediatric Nephrology, 21 2: 270-273. doi:10.1007/s00467-005-2071-x


Author Coman D.
Huang J.
McTaggart S.
Sakamoto O.
Ohura T.
McGill J.
Burke J.
Title Renal transplantation in a 14-year-old girl with vitamin B12-responsive cblA-type methylmalonic acidaemia
Journal name Pediatric Nephrology   Check publisher's open access policy
ISSN 0931-041X
Publication date 2006-01-01
Year available 2006
Sub-type Article (original research)
DOI 10.1007/s00467-005-2071-x
Open Access Status
Volume 21
Issue 2
Start page 270
End page 273
Total pages 4
Place of publication NEW YORK
Publisher SPRINGER
Language eng
Subject 2727 Nephrology
2735 Pediatrics, Perinatology, and Child Health
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.
Keyword CblA
Chronic renal failure
Methylmalonic acidaemia
Renal transplant
Vitamin B12
Q-Index Code C1
Q-Index Status Provisional Code
Institutional Status Unknown

Document type: Journal Article
Sub-type: Article (original research)
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