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Article

Late-onset cblC defect: clinical, biochemical and molecular analysis.

Orphanet journal of rare diseases - 28 Sept 2023

Ding Si, Ling Shiying, Liang Lili, Qiu Wenjuan, Zhang Huiwen, Chen Ting, Zhan Xia, Xu Feng, Gu Xuefan, Han Lianshu

Abstract excerpt

BACKGROUND: cblC defect is the most common type of methylmalonic acidemia in China. Patients with late-onset form (>1 year) are often misdiagnosed due to heterogeneous symptoms. This study aimed to describe clinical characteristics and evaluate long-term outcomes of Chinese patients with late-onset cblC defect. METHODS: A total of 85 patients with late-onset cblC defect were enrolled. Clinical data, including...

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Identifiers

PMID: 37770946
DOI: 10.1186/s13023-023-02890-4
PMCID: PMC10536707

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