Biopterin defect in cofactor biosynthesis（四氢生物蝶呤缺乏） |
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由于四氢生物喋呤是苯基丙氨酸代谢过程中的辅助物质。GCH1,PCBD4,PTS,QDPR这几个基因指导合成和回收四氢生物喋呤的关键酶，这几个基因突变导致四氢生物喋呤缺乏，苯基丙氨酸在体内堆积从而对机体形成损害。
QDPR编码醌式二氢蝶啶还原酶，该酶参与BH4的回收。该基因突变导致醌式二氢蝶啶还原酶缺乏，从而引起四氢蝶呤缺乏症，占比约三分之一。醌式二氢蝶啶还原酶活性降低使得一些神经传导物质产量降低，影响大脑功能，造成智力残疾。
| 基因名称 | 基因全名 | 基因位置 | 外显子个数 | CDS长度 |
|---|---|---|---|---|
| QDPR | quinoid dihydropteridine reductase | 4p15.31 | 7 | 约1653 bp |
| 基因摘要 | This gene encodes the enzyme dihydropteridine reductase, which catalyzes the NADH-mediated reduction of quinonoid dihydrobiopterin. This enzyme is an essential component of the pterin-dependent aromatic amino acid hydroxylating systems. Mutations in this gene resulting in QDPR deficiency include aberrant splicing, amino acid substitutions, insertions, or premature terminations. Dihydropteridine reductase deficiency presents as atypical phenylketonuria due to insufficient production of biopterin, a cofactor for phenylalanine hydroxylase. [provided by RefSeq, Jul 2008]. | |||