Clinical and genotypic analysis of 79 children with methylmalonic acidemia: a retrospective single-center study in China

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The study analyzed 79 pediatric patients with methylmalonic acidemia (MMA) from Shandong Province, China, focusing on clinical and genetic features.
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Patients exhibited diverse symptoms, with early-onset cases showing more severe manifestations and poorer prognoses compared to later-onset cases.
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Combined MMA with hyperhomocysteinemia was more prevalent, affecting 47 patients, while 32 had isolated MMA, each presenting distinct clinical characteristics.
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Blood biochemical analysis revealed various abnormalities, with isolated MMA patients frequently showing hyperglycemia and increased vomiting.
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The study identified 89 mutation sites in combined MMA and 64 in isolated MMA, contributing to a better understanding of the genetic basis of the disorder.

Frontiers In Endocrinology

by Huimin Yu, Xiangbo Xie, Chen Chen, Donglei Chen, Yan Sun, Guimei Li, Xiaohong Shang, Jianmei Yang
June 15, 2026

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