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Article

Investigation on a MMACHC mutant from cblC disease: The c.394C>T variant.

Biochimica et biophysica acta. Proteins and proteomics - 1 Jun 2022

Passantino Rosa, Mangione Maria Rosalia, Ortore Maria Grazia, Costa Maria Assunta, Provenzano Alessia, Amenitsch Heinz, Sabbatella Raffaele, Alfano Caterina, Martorana Vincenzo, Vilasi Silvia

Abstract excerpt

The cblC disease is an inborn disorder of the vitamin B12 (cobalamin, Cbl) metabolism characterized by methylmalonic aciduria and homocystinuria. The clinical consequences of this disease are devastating and, even when early treated with current therapies, the affected children manifest symptoms involving vision, growth, and learning. The illness is caused by mutations in the gene codifying for MMACHC, a 282aa...

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PMID: 35618206
DOI: 10.1016/j.bbapap.2022.140793

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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