Abstract: 【Abstract】Methylmalonic acidemia(MMA), also known as methylmalonic aciduria, is the most common disease among autosomal recessive organic acid metabolism disorders in China. The common clinical manifestations of MMA include difficulties in eating, repeated vomiting, generalized hypotonia, movement disorders, drowsiness, neurological abnormalities, hypoglycemia, acidosis, etc. However, hyperglycemia is a relatively rare manifestation , and cases presenting as diabetic ketoacidosis are even rarer. In clinical practice, such cases are prone to misdiagnosis and delayed treatment. Therefore, detailed description of MMA presenting as diabetic ketoacidosis can help in differential diagnosis, guide treatment plans, and prevent misdiagnosis and delayed treatment.
史春花 陈德鸿 李育霖 邹卉. 以糖尿病酮症酸中毒为表现的甲基丙二酸血症研究进展[J]. 发育医学电子杂志, 2025, 13(5): 391-394.
Shi Chunhua, Chen Dehong, Li Yulin, et al. Research progress of methylmalonic acidemia presenting as diabetic ketoacidosis. Journal of Developmental Medicine(Electronic Version), 2025, 13(5): 391-394.
2025, Vol. 13 
