Ontology highlight
ABSTRACT:
SUBMITTER: Tong X
PROVIDER: S-EPMC5979516 | biostudies-literature | 2018 Mar
REPOSITORIES: biostudies-literature
Tong Xiaoling X Liang Pingfeng P Wu Songyuan S Li Yuanhao Y Qiao Liang L Hu Hai H Xiang Zhonghuai Z Lu Cheng C Dai Fangyin F
International journal of molecular sciences 20180329 4
Phenylketonuria (PKU) is an inborn error of metabolism caused by mutations in the phenylalanine hydroxylase (<i>PAH</i>) gene or by defects in the tetrahydrobiopterin (BH4) synthesis pathway. Here, by positional cloning, we report that the 6-pyruvoyl-tetrahydropterin synthase (<i>PTPS</i>) gene, encoding a key enzyme of BH4 biosynthesis, is responsible for the <i>al<sup>c</sup></i> (albino C) mutation that displays pale body color, head shaking, and eventually lethality after the first molting i ...[more]