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While liver and\/or kidney transplantation in MMA may reduce the risk of metabolic crisis and end\u2010organ disease, it does not fully prevent disease\u2010related complications. We performed detailed metabolite and kinetic analyses in a 28\u2010year\u2010old patient with <jats:italic>mut<\/jats:italic><jats:sup><jats:italic>0<\/jats:italic><\/jats:sup> MMA who underwent hemodialysis for 6 months prior to receiving a combined liver\/kidney transplant. A single hemodialysis session led to a 54 % reduction in plasma methylmalonic acid and yielded a plasma clearance of 103 ml\/min and V<jats:sub>D<\/jats:sub>0.48 L\/kg, which approximates the total body free water space. This was followed by rapid reaccumulation of methylmalonic acid over 24 h to the predialysis concentration in the plasma. Following combined liver\/kidney transplantation, the plasma methylmalonic acid was reduced to 3 % of pre\u2010dialysis levels (6,965\u2009\u00b1\u20091,638 (SD) \u03bcmol\/L and 234\u2009\u00b1\u2009100 (SD) \u03bcmol\/L) but remained &gt;850\u00d7 higher than the upper limit of normal (0.27\u2009\u00b1\u20090.08 (SD) \u03bcmol\/L). Despite substantial post\u2010operative metabolic improvement, the patient developed significant neurologic complications including acute worsening of vision in the setting of pre\u2010existing bilateral optic neuropathy, generalized seizures, and a transient, focal leukoencephalopathy. Plasma methylmalonic acid was stable throughout the post\u2010operative course. The biochemical parameters exhibited by this patient further define the whole body metabolism of methylmalonic acid in the setting of dialysis and subsequent combined liver\/kidney transplant.<\/jats:p>","DOI":"10.1007\/s10545-014-9730-7","type":"journal-article","created":{"date-parts":[[2014,6,24]],"date-time":"2014-06-24T13:38:48Z","timestamp":1403617128000},"page":"899-907","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":44,"title":["A detailed analysis of methylmalonic acid kinetics during hemodialysis and after combined liver\/kidney transplantation in a patient with <i>mut<\/i><sup>0<\/sup> methylmalonic acidemia"],"prefix":"10.1002","volume":"37","author":[{"given":"Hilary J.","family":"Vernon","sequence":"first","affiliation":[{"name":"McKusick\u2010Nathans Institute of Genetic Medicine Johns Hopkins University 733 N. 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