{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,8]],"date-time":"2026-07-08T17:29:44Z","timestamp":1783531784583,"version":"3.55.0"},"reference-count":0,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2004,1,21]],"date-time":"2004-01-21T00:00:00Z","timestamp":1074643200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J of Inher Metab Disea"],"published-print":{"date-parts":[[2005,6]]},"abstract":"<jats:title>Summary<\/jats:title><jats:p>Methylmalonic acidaemia (MMA) is a rare autosomal recessive inborn error of metabolism that typically presents in infancy with recurrent episodes of metabolic acidosis, developmental delay and failure to thrive. The disease course is complicated by the development of chronic tubulointerstitial nephritis progressing to end\u2010stage renal disease in adolescence. We describe two adolescents with cobalamin\u2010nonresponsive MMA (<jats:italic>mut<\/jats:italic><jats:sup><jats:italic>0<\/jats:italic><\/jats:sup>) who developed polyuria, chronic tubulointerstitial nephritis, dystonia but normal synthetic liver function. Both patients received combined liver\u2013kidney transplantation (CLKT), preceded by a single pretransplant haemodialysis for clearance of methylmalonic acid. Post CLKT there was 95\u201397% reduction in serum and urine methylmalonic acid, leading to significant liberalization of dietary protein intake and a consequent increase in body mass index, muscle strength and energy. In addition, renal function normalized and clinical neurological status stabilized. We propose that CLKT be considered as a therapeutic option early in the course of cobalamin\u2010nonresponsive MMA. Progressive tubulointerstitial nephritis with disabling polyuria is a confounder in patient management even in the absence of end\u2010stage renal disease. Successful CLKT restores methylmalonyl\u2010CoA mutase enzyme levels in the liver and kidney, improves clearance of methylmalonic acid with resultant dietary protein liberalization, and offers excellent graft and patient outcomes with improvement in quality of life.<\/jats:p>","DOI":"10.1007\/s10545-005-0517-8","type":"journal-article","created":{"date-parts":[[2005,5,17]],"date-time":"2005-05-17T12:50:32Z","timestamp":1116334232000},"page":"517-524","source":"Crossref","is-referenced-by-count":62,"title":["Management of methylmalonic acidaemia by combined liver\u2013kidney transplantation"],"prefix":"10.1002","volume":"28","author":[{"given":"S.","family":"Nagarajan","sequence":"first","affiliation":[{"name":"Pediatric Nephrology  California"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"G. M.","family":"Enns","sequence":"additional","affiliation":[{"name":"Medical Genetics  California"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M. T.","family":"Millan","sequence":"additional","affiliation":[{"name":"Surgery Stanford University  California"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"S.","family":"Winter","sequence":"additional","affiliation":[{"name":"Medical Genetics and Metabolism Valley Children's Place  Madera California USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M. M.","family":"Sarwal","sequence":"additional","affiliation":[{"name":"Pediatric Nephrology  California"},{"name":"Pediatric Nephrology, G320, Pasteur Drive Stanford University  California 94305\u20105208 USA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2004,1,21]]},"container-title":["Journal of Inherited Metabolic Disease"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1007\/s10545-005-0517-8","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1007\/s10545-005-0517-8","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,15]],"date-time":"2023-09-15T00:22:27Z","timestamp":1694737347000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1007\/s10545-005-0517-8"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2004,1,21]]},"references-count":0,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2005,6]]}},"alternative-id":["10.1007\/s10545-005-0517-8"],"URL":"https:\/\/doi.org\/10.1007\/s10545-005-0517-8","archive":["Portico"],"relation":{},"ISSN":["0141-8955","1573-2665"],"issn-type":[{"value":"0141-8955","type":"print"},{"value":"1573-2665","type":"electronic"}],"subject":[],"published":{"date-parts":[[2004,1,21]]}}}