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REVERSIBLE CLINICAL AND MAGNETIC RESONANCE IMAGING FINDINGS IN LATE-ONSET COBALAMIN C DEFECT.

Genetic counseling (Geneva, Switzerland) - 1 Jan 2015

Gurkas E, Kartal A, Aydin K, Kucukçongar A, Dilber C, Ceylaner S

Abstract excerpt

Cobalamin C (Cbl C) disease is an inborn error of intracellular cobalamin metabolism. Two distinct clinical types are defined according to the age of onset. We describe an 8 year old girl with late-onset Cbl C disease presenting with neuropsychiatric symptoms. Mutation analysis revealed homozygous c.394C>T (p.R132X) mutation in the MMACHC gene. Serial magnetic resonance imaging (MRI) before and after the...

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Identifiers

PMID: 26852513

Genes

MMACHC

Variants

Provenance

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

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