Advances in diagnosis and treatment of mevalonic aciduria
10.3760/cma.j.issn.1673-4408.2025.09.006
- VernacularTitle:甲羟戊酸尿症的诊治进展
- Author:
Shanshan XUE
1
;
Wence ZHANG
;
Lihong HAO
Author Information
1. 天津市儿童医院（天津大学儿童医院）新生儿内科 天津市出生缺陷防治重点实验室 300074
- Keywords:
Mevalonic aciduria;
Clinical manifestations;
Imaging characteristics
- From:
International Journal of Pediatrics
2025;52(9):603-607
- CountryChina
- Language:Chinese
-
Abstract:
Mevalonic aciduria is a rare early-onset cholesterol biosynthesis disorder，inherited in an autosomal recessive manner，which characterized with recurrent fever，hepatosplenomegaly，lymphadeno-pathy，vomiting，diarrhea and neurological damage symptoms. The symptoms of mevalonic aciduria could appear at any stage throughout the whole life cycle，and the youngest case has been diagnosed in the neonatal period. Lacking of specific clinical manifestations，it is easy to be confused with other diseases in real clinical settings. It is important that increasing awareness of this disease could effectively decrease misdiagnosis and delayed diagnosis. This paper introduces the advance of mevalonic aciduria from the aspects of genetic variants，clinical manifestations and neuroimaging changes，to help clinicians better identify and diagnose at an early stage.
