A rare mutation c.1663G > A (p.A555T) in the MMUT gene associated with mild clinical and biochemical phenotypes of methylmalonic acidemia in 30 Chinese patients.

Lili LiangRuixue ShuaiYue YuWenjuan QiuLinghua ShenShengnan WuHaiyan WeiYongxing ChenChiju YangPeng XuXigui ChenHui ZouJizhen FengTingting NiuHaili HuJun YeHuiwen ZhangDeyun LuZhuwen GongXia ZhanWenjun JiYongguo YuXuefan GuLian-Shu Han

Published in: Orphanet journal of rare diseases (2021)

Compared to patients with other mutations in the MMUT gene, patients with the c.1663G > A (p.A555T) mutation showed later onset, milder clinical phenotype, lighter biochemical abnormalities, better vitamin B12 responsiveness, lower morbidity, easier metabolic control, and thereby better prognosis. Newborn screening project plays an important role in early diagnosis, treatment, and prognosis of these patients.

Keyphrases

end stage renal disease
newly diagnosed
ejection fraction
copy number
peritoneal dialysis
quality improvement
transcription factor
smoking cessation