Liver transplantation is not curative for methylmalonic acidopathy caused by methylmalonyl-CoA mutase deficiency

Mol Genet Metab. 2006 Aug;88(4):322-6. doi: 10.1016/j.ymgme.2006.04.003. Epub 2006 Jun 5.

Abstract

Methylmalonic acidopathy resulting from severe methylmalonyl-CoA mutase deficiency causes acute, potentially lethal ketoacidotic episodes, renal failure, and acute and chronic neurologic disease. As dietary and alkali therapy is suboptimal, liver transplantation during infancy has been touted as a potential cure. However, reports in liver transplant recipients about new onset neurologic disease, in the absence of ketoacidosis, and progressive renal insufficiency have cast doubt about its effectiveness. We report the long-term (9 years) outcome for the first patient with severe methylmalonic acidopathy transplanted in the USA and provide new biochemical data that indicate why transplanted patients are still susceptible to "metabolic strokes". In our 10-year-old male patient, there is clear evidence that the de novo synthesis of propionyl-CoA within the CNS leads to brain methylmalonate (MMA) accumulation that is largely unaffected by transplantation. Liver replacement is not a cure for methylmalonic acidopathy.

Publication types

  • Case Reports

MeSH terms

  • Amino Acid Metabolism, Inborn Errors / complications
  • Amino Acid Metabolism, Inborn Errors / metabolism
  • Amino Acid Metabolism, Inborn Errors / surgery*
  • Amino Acid Metabolism, Inborn Errors / therapy
  • Child
  • Diet, Protein-Restricted
  • Hearing Loss / diagnosis
  • Humans
  • Immunosuppressive Agents / therapeutic use
  • Infections / complications
  • Kidney / physiology
  • Liver Transplantation*
  • Male
  • Methylmalonic Acid / blood
  • Methylmalonic Acid / cerebrospinal fluid
  • Methylmalonic Acid / urine
  • Methylmalonyl-CoA Mutase / deficiency*
  • Tremor / drug therapy

Substances

  • Immunosuppressive Agents
  • Methylmalonic Acid
  • Methylmalonyl-CoA Mutase