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Article

Evaluation of the clinical, biochemical, genotype and prognosis of mut-type methylmalonic acidemia in 365 Chinese cases.

Journal of medical genetics - 21 Dec 2023

Liang Lili, Ling Shiying, Yu Yue, Shuai Ruixue, Qiu Wenjuan, Zhang Huiwen, Shen Linghua, Wu Shengnan, Wei Haiyan, Chen Yongxing, Yang Chiju, Xu Peng, Chen Xigui, Zou Hui, Feng Jizhen, Niu Tingting, Hu Haili, Gong Zhuwen, Chen Ting, Zhan Xia, Gu Xuefan, Han Lianshu

Abstract excerpt

BACKGROUND: Methylmalonic acidemia (MMA), which results from defects in methylmalonyl-CoA mutase (mut type) or its cofactor, is the most common inherited organic acid metabolic disease in China. This study aimed to investigate the phenotype and genotype of mut-type MMA in Chinese patients. METHODS: We recruited 365 patients with mut-type MMA; investigated their disease onset, newborn screening (NBS) status,...

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PMID: 37316190
DOI: 10.1136/jmg-2022-108682

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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