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作者

赵梦阁 任中杰 李 静

作者单位

山东第一医科大学(山东省医学科学院)研究生部，山东 济南 山东第一医科大学第二附属医院新生儿科，山东 泰安

刊名

Asian Case Reports in Pediatrics

年份

2026

卷号

Vol.14 No.1

页码

10-14

ISSN

2328-045X

关键词

甲基丙二酸血症 新生儿期 MMUT基因 全外显 血氨 Methylmalonic Acidemia Neonatal Period MMUT Gene Whole Exome Sequencing Hyperammonemia

摘要

Methylmalonic acidemia 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 distur...更多

Methylmalonic acidemia 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.收起

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