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,PCBD2,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。
已发现至少9种基因突变会导致四氢蝶呤甲胺醇脱水酶缺乏，从而导致四氢蝶呤缺乏症，占比约5%；不过该基因突变影响不大，其他酶能弥补该酶活性降低
| 基因名称 | 基因全名 | 基因位置 | 外显子个数 | CDS长度 |
|---|---|---|---|---|
| PCBD1 | pterin-4 alpha-carbinolamine dehydratase/dimerization cofactor of hepatocyte nuclear factor 1 alpha | 10q22 | 4 | 约1156 bp |
| 基因摘要 | This gene encodes a member of the pterin-4-alpha-carbinolamine dehydratase family. The encoded protein has been identified as a moonlighting protein based on its ability to perform mechanistically distinct functions. The encoded protein functions as both a dehydratase involved in tetrahydrobiopterin biosynthesis, and as a cofactor for HNF1A-dependent transcription. A deficiency of this enzyme leads to hyperphenylalaninemia. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2014]. | |||