Inherited metabolic disorders and intellectual disability
10.3760/cma.j.cn101070-20200316-00412
- VernacularTitle:遗传代谢病与智力障碍
- Author:
Hong ZHENG
1
;
Xiangpeng LU
;
Bingxiang MA
Author Information
1. 河南中医药大学第一附属医院儿科，郑州 450000
- From:
Chinese Journal of Applied Clinical Pediatrics
2020;35(9):656-661
- CountryChina
- Language:Chinese
-
Abstract:
Intellectual disability is a common disease in children′s nervous system, which seriously endangers children′s physical and mental health.The etiology of the intellectual disability is complex, and many genetic and environmental factors are involved in the process of it.Inherited metabolic disorders are an important cause of the disease.With the improvement of diagnosis and treatment level, the clinical outcome of children with inherited metabolic disorders can be greatly improved after early diagnosis and treatment.Therefore, it is of great significance for guiding the treatment, prognosis and reproduction of patients to identify the inherited metabolic disorders that lead to intellectual disability in time and as early as possible.Now, the known inherited metabolic disorders that lead to intellectual disability, such as phenylketonuria, mitochondrial disease, urea circulatory disorder, creatine deficiency syndrome, and lysosomal storage syndrome, etc, are summarized, which are helpful to understand its clinical characteristics and improve the clinical recognition.
