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Late-onset severe axonal polyneuropathy in mut0 methylmalonic acidemia after liver-kidney transplantation: a

Mariapia Griffo1, Francesca Magri2, Francesca Furlan3

  • 1Department of Pathophysiology and Transplantation, Dino Ferrari Center, University of Milan, Milan, Italy.

BMC Neurology
|June 12, 2026
PubMed
Abstract

Insights

Neurological complications can arise 12 years after liver-kidney transplantation for methylmalonic acidemia (MMA). Biomarkers like neurofilament light chain (NfL), FGF21, and GDF15 may help monitor patients.

Area of Science:

  • Transplantation Medicine
  • Neurology
  • Metabolic Disorders

Background:

  • Liver-kidney transplantation improves metabolic control in methylmalonic acidemia (MMA).
  • Neurological complications, particularly peripheral neuropathy, remain a risk post-transplantation.
  • Pathophysiology and surveillance for post-transplant neuropathy in MMA are not well-defined.

Purpose of the Study:

  • To describe a severe axonal sensorimotor polyneuropathy in a patient with mut0 MMA 12 years post-liver-kidney transplantation.
  • To investigate potential biomarkers for monitoring neurological complications in MMA transplant recipients.

Main Methods:

  • Case report of a 20-year-old mut0 MMA patient with severe neuropathy post-transplantation.
  • Clinical, electrophysiological, and biochemical investigations, including cerebrospinal fluid analysis and biomarker measurement (NfL, FGF21, GDF15).
  • Exclusion of Guillain-Barré syndrome variants through specific tests and imaging.

Main Results:

  • Severe axonal sensorimotor polyneuropathy diagnosed 12 years post-transplantation.
  • Markedly elevated plasma NfL (204× ULN), indicating significant neuroaxonal injury.
  • Elevated FGF21 and GDF15 levels suggesting mitochondrial stress.

Conclusions:

  • Neurological stability is not assured long-term after MMA transplantation.
  • Management involved switching immunosuppression and optimizing vitamin B12.
  • NfL, FGF21, and GDF15 are proposed as valuable monitoring tools for MMA transplant recipients.
Keywords:
Axonal neuropathyCalcineurin inhibitor neuropathyGenotype-phenotype correlationLiver-kidney transplantMMUT geneMethylmalonic acidemiaMut0 genotypeNeurofilament light chainTacrolimus neurotoxicity

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