Late-onset cobalamin C defect with a rare MMACHC c.457 C > T variant: a case report and literature review

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20 Oct 2026 0 comments

CONCLUSIONS: This case expands the genotypic spectrum of cblC defect in China and highlights the importance of metabolic screening and genetic testing in children and adolescents with otherwise unexplained neuropsychiatric manifestations. Early recognition and targeted treatment are crucial for improving long-term neurological outcomes.