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Article

Late-onset severe axonal polyneuropathy in mut0 methylmalonic acidemia after liver-kidney transplantation: a genotype-informed case report.

BMC neurology - 11 Jun 2026

Griffo Mariapia, Magri Francesca, Furlan Francesca, Bernardi Elisabetta, Menni Francesca, Tagliaferri Francesco, Testa Sara, Ronchi Dario, Petrillo Sara, Piemonte Fiorella, Gagliardi Delia, Parisi Mosè, Padelli Samuel, Velardo Daniele, Molitierno Nicola, Corti Stefania, Comi Giacomo Pietro

Abstract excerpt

BACKGROUND: Liver-kidney transplantation in methylmalonic acidemia (MMA) improves metabolic control but does not eliminate neurological risk. Peripheral neuropathy is increasingly recognized in transplanted patients, yet its pathophysiology and surveillance strategies remain poorly defined. CASE PRESENTATION: We describe a severe axonal sensorimotor polyneuropathy that occurred 12 years after combined liver and...

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Share to Amino Acid Metabolism, Inborn Errors
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 42277733
DOI: 10.1186/s12883-026-05041-x
PMCID: PMC13483674

Genes

FGF21
GDF15
MMUT

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

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