Inherited metabolic disorders and intellectual disability / 中华实用儿科临床杂志

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.