Abstract |
End stage kidney disease is a well-known complication of methylmalonic acidemia (MMA), and can be treated by dialysis, kidney transplant, or combined kidney- liver transplant. While liver and/or kidney transplantation in MMA may reduce the risk of metabolic crisis and end-organ disease, it does not fully prevent disease-related complications. We performed detailed metabolite and kinetic analyses in a 28-year-old patient with mut (0) 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 VD0.48 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-dialysis levels (6,965 ± 1,638 (SD) μmol/L and 234 ± 100 (SD) μmol/L) but remained >850× higher than the upper limit of normal (0.27 ± 0.08 (SD) μmol/L). Despite substantial post-operative metabolic improvement, the patient developed significant neurologic complications including acute worsening of vision in the setting of pre-existing bilateral optic neuropathy, generalized seizures, and a transient, focal leukoencephalopathy. Plasma methylmalonic acid was stable throughout the post-operative 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.
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Authors | Hilary J Vernon, C John Sperati, Joshua D King, Andrea Poretti, Neil R Miller, Jennifer L Sloan, Andrew M Cameron, Donna Myers, Charles P Venditti, David Valle |
Journal | Journal of inherited metabolic disease
(J Inherit Metab Dis)
Vol. 37
Issue 6
Pg. 899-907
(Nov 2014)
ISSN: 1573-2665 [Electronic] United States |
PMID | 24961826
(Publication Type: Case Reports, Journal Article)
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Chemical References |
- Methylmalonic Acid
- Methylmalonyl-CoA Mutase
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Topics |
- Adult
- Amino Acid Metabolism, Inborn Errors
(complications)
- Female
- Humans
- Kidney
(surgery)
- Kidney Failure, Chronic
(therapy)
- Kidney Transplantation
- Kinetics
- Liver
(surgery)
- Liver Transplantation
- Methylmalonic Acid
(blood)
- Methylmalonyl-CoA Mutase
(genetics)
- Postoperative Complications
(diagnosis)
- Renal Dialysis
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