Abstract:

Methylmalonic acidemia is an autosomal recessive genetic disease with abnormal methylmalonyl-CoA mutase metabolism. At present, neuropathy or metabolic acidosis have been reported as the first symptoms of the disease. This article reports and analyzes one case of methylmalonic acidemia with constipation as the first symptoms treated at Binzhou Medical University Hospital on September 18, 2023, hoping to provide help for early detection and treatment of methylmalonic acidemia.

Key words:

Methylmalonic acidemia is an autosomal recessive genetic disease with abnormal methylmalonyl-CoA mutase metabolism. At present, neuropathy or metabolic acidosis have been reported as the first symptoms of the disease. This article reports and analyzes one case of methylmalonic acidemia with constipation as the first symptoms treated at Binzhou Medical University Hospital on September 18, 2023, hoping to provide help for early detection and treatment of methylmalonic acidemia.

摘要：

甲基丙二酸血症是一种甲基丙二酰辅酶A变位酶代谢异常的常染色体隐形遗传病，目前对该病的报道主要以神经病变或代谢性酸中毒为首发症状。该文对滨州医学院附属医院2023年9月18日1例以便秘为首发症状的甲基丙二酸血症患者进行报道并文献分析，希望可以为尽早发现并治疗甲基丙二酸血症提供帮助。

关键词:

Methylmalonic acidemia,  , Hypercysteinemia,  , Constipation,  , Peripheral nerve damage,  , Vitamin B12