新生儿期起病的甲基丙二酸血症1例

A Case Report and Analysis of Neonatal Methylmalonic Acidemia Caused by MMUT Gene Mutation

摘要: 甲基丙二酸血症(methylmalonic acidemia, MMA)是一种常染色体隐性遗传病，其病理基础是甲基丙二酰辅酶A变位酶或钴胺素代谢相关基因的缺陷。该疾病可以引起多脏器、多系统的损伤，而其起病时期可以从新生儿时期到成年期，表现也有不同，其中新生儿期常表现为反复呕吐、拒食、喂养困难、高血氨、酸中毒、抽搐及意识障碍等，预后差，诊断延误可导致严重后遗症甚至死亡。本文报道1例MMUT基因突变的新生儿期起病的甲基丙二酸患儿，旨在深入认识甲基丙二酸血症，丰富对该疾病相关基因型在新生儿期起病的临床表现及病程进展的认知，强调了新生儿期甲基丙二酸血症早期诊断的紧迫性与重要性，现报道如下。

Abstract: Methylmalonic acidemia (MMA) is an autosomal recessive genetic disorder, the pathological basis of which is a defect in methylmalonyl-CoA mutase or genes related to cobalamin metabolism. This disease can cause damage to multiple organs and systems, and the onset can occur from the neonatal period to adulthood, with varying clinical manifestations. In the neonatal period, it commonly presents with recurrent vomiting, feeding difficulties, hyperammonemia, acidosis, convulsions, and consciousness disturbances, with poor prognosis. Delayed diagnosis can lead to severe sequelae or even death. This report presents a case of a neonate with Methylmalonic acidemia caused by a mutation in the MMUT gene, aiming to deepen the understanding of methylmalonic acidemia, enrich knowledge about the clinical manifestations and disease progression of this disorder associated with specific genotypes in the neonatal period, and underscore the urgency and importance of early diagnosis of neonatal methylmalonic acidemia. The case is reported as follows.