Identification and molecular analysis of 11 cases of the PTS gene variants associated with tetrahydrobiopterin deficiency

Identification and molecular analysis of 11 cases of the PTS gene variants associated with tetrahydrobiopterin deficiency

Background: Tetrahydrobiopterin deficiency (BH4D) is a rare autosomal recessive amino acid metabolic disease that belongs to a kind of hyperphenylalaninemia (HPA), and 6-pyruvyltetrahydrotrexate synthase (PTPS) deficiency is the most common type of BH4D. This study investigates the clinical and gene...

Full description

Bibliographic Details
Main Authors: Lulu Li, Haihe Yang, Jinqi Zhao, Nan Yang, Lifei Gong, Yue Tang, Yuanyuan Kong
Format: Article
Language:English
Published: Frontiers Media S.A. 2022-09-01
Series:Frontiers in Genetics
Subjects:
HPA
BH4D
PTPS deficiency
PTS
high-throughput sequencing
rare disease
Online Access:https://www.frontiersin.org/articles/10.3389/fgene.2022.919209/full

Similar Items

Similar Items