{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,4]],"date-time":"2026-05-04T04:27:42Z","timestamp":1777868862017,"version":"3.51.4"},"reference-count":0,"publisher":"S. Karger AG","license":[{"start":{"date-parts":[[2017,8,11]],"date-time":"2017-08-11T00:00:00Z","timestamp":1502409600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/karger.com\/pages\/terms-and-conditions"},{"start":{"date-parts":[[2017,8,11]],"date-time":"2017-08-11T00:00:00Z","timestamp":1502409600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/karger.com\/pages\/terms-and-conditions"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Enzyme"],"abstract":"<jats:p>It has been proven that the most common defect in the tetrahydrobiopterin\nbiosynthesis is caused by 6-pyruvoyl tetrahydropterin synthase deficiency. The enzyme 6-\npyruvoyl tetrahydropterin synthase consists of four identical subunits which convert dihydroneopterin\ntriphosphate to 6-pyruvoyl tetrahydropterin in the presence of magnesium.\nUV, NMR, and MS data prove that the enzyme catalyzes the elimination of triphosphate as\nwell as the intramolecular rearrangement. The 6-pyruvoyl tetrahydropterin synthase activity\nwas measured in fetal erythrocytes and together with the neopterin and biopterin measurements\nin amniotic fluid this enabled performing prenatal diagnosis of 6-pyruvoyl tetrahydropterin\nsynthase deficiency. Peripheral tetrahydrobiopterin deficiency was shown to be\ndue to an incomplete 6-pyruvoyl tetrahydropterin synthase deficiency or heterozygosity.<\/jats:p>","DOI":"10.1159\/000469220","type":"journal-article","created":{"date-parts":[[2017,8,11]],"date-time":"2017-08-11T17:22:23Z","timestamp":1502472143000},"page":"302-311","source":"Crossref","is-referenced-by-count":16,"title":["Tetrahydrobiopterin Biosynthetic Pathway and Deficiency"],"prefix":"10.1159","author":[{"given":"A.","family":"Niederwieser","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"H. C.","family":"Curtius","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"127","published-online":{"date-parts":[[2017,8,11]]},"container-title":["Enzyme"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/karger.com\/article-pdf\/doi\/10.1159\/000469220","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,4,30]],"date-time":"2026-04-30T12:47:33Z","timestamp":1777553253000},"score":1,"resource":{"primary":{"URL":"https:\/\/karger.com\/article\/doi\/10.1159\/000469220"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2017,8,11]]},"references-count":0,"URL":"https:\/\/doi.org\/10.1159\/000469220","archive":["Portico"],"relation":{},"ISSN":["0013-9432","2504-2564"],"issn-type":[{"value":"0013-9432","type":"print"},{"value":"2504-2564","type":"electronic"}],"subject":[],"published":{"date-parts":[[2017,8,11]]}}}