Research progress on phenotype and genotype of hyperphenylalaninemia.
- Author:
Ting CHEN
1
;
Zhengyan ZHAO
2
;
Pingping JIANG
3
;
Qiang SHU
1
Author Information
1. Department of Cardiovascular and Thoracic Surgery, the Children's Hospital, Zhejiang University School of Medicine, Hangzhou 310052, China.
2. Department of Genetics and Metabolic Diseases, the Children's Hospital, Zhejiang University School of Medicine, Hangzhou 310052, China.
3. Institute of Genetics, Zhejiang University, Hangzhou 310058, China.
- Publication Type:Journal Article
- From:
Journal of Zhejiang University. Medical sciences
2018;47(3):219-226
- CountryChina
- Language:Chinese
-
Abstract:
Hyperphenylalaninemia(HPA), an autosomal recessive disease, is the most common inborn error of amino acid metabolism, caused by the deficiency of phenylalanine hydroxylase(PAH) or tetrahydrobiopterin(BH4) which induced by mutations of genes. The accumulation of the clinical database and genetic information will enhance the development of novel personalized medicine and to provide more accurate and timely diagnostic and therapeutic approaches for HPA. This paper summarizes the correlations between HPA metabolism and PAH, BH4, pathogenic genes and their distributions in HPA, as well as the phenotypes and genotypes of HPA, so as to provide reference for personalized medicine for HPA.
