Hyperphenylalaninemia with high levels of 7-biopterin is associated with mutations in the PCBD gene encoding the bifunctional protein pterin-4a-carbinolamine dehydratase and transcriptional coactivator (DCoH)

高苯丙氨酸血症伴有高水平的 7-生物蝶呤与 PCBD 基因突变有关，该基因编码双功能蛋白蝶呤-4a-甲醇胺脱水酶和转录共激活因子 (DCoH)。