{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,9,19]],"date-time":"2025-09-19T10:46:22Z","timestamp":1758278782628},"reference-count":12,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[1993,10,26]],"date-time":"1993-10-26T00:00:00Z","timestamp":751593600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J of Inher Metab Disea"],"published-print":{"date-parts":[[1994,3]]},"abstract":"<jats:title>Summary<\/jats:title><jats:p>We report our experience with the deficiency of 6\u2010pyruvoyltetrahydropterin synthase, the most common form of tetrahydrobiopterin deficiency. We investigated 5200 patients suspected of having some inborn error of metabolism in a 10\u2010year period, and detected 30 cases (from 28 sibships) of hyperphenylalaninaemias, HPA. From these, 4 sibships (5 patients) were affected by deficiency of 6\u2010pyruvoyltetrahydropterin synthase. All of them were ethnically mixed, with some European ancestry detected in all. The age of diagnosis ranged from 2 to 9 years, and all were initially referred for investigation by having mental retardation and seizures. All of them showed low urinary biopterin levels and a marked elevation of neopterin. Although we detected only a few cases of HPA (30), 5 cases of 6\u2010pyruvoyltetrahydropterin account for almost 20% of this total. The literature, however, reports a proportion of around 0.5%. As the frequency of classical phenylketonuria in our region is similar to that found in Caucasians (1\/12 500), we believe that the frequency of this disease in South Brazil may be higher than expected (of the order of 1\/400 000). We speculate that this finding could be related to a genetic drift (or founder effect).<\/jats:p>","DOI":"10.1007\/bf00711622","type":"journal-article","created":{"date-parts":[[2004,11,30]],"date-time":"2004-11-30T12:22:34Z","timestamp":1101817354000},"page":"223-229","source":"Crossref","is-referenced-by-count":8,"title":["Possible high frequency of tetrahydrobiopterin deficiency in South Brazil"],"prefix":"10.1002","volume":"17","author":[{"given":"L. B.","family":"Jardim","sequence":"first","affiliation":[{"name":"Medical Genetics Unit Hospital de Clinicas de Porto Alegre  Ramiro Barcelos, 2350 Porto Alegre, RS 90035\u2010002 Brazil"},{"name":"Department of Internal Medicine UFRGS  Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"R.","family":"Giugliani","sequence":"additional","affiliation":[{"name":"Medical Genetics Unit Hospital de Clinicas de Porto Alegre  Ramiro Barcelos, 2350 Porto Alegre, RS 90035\u2010002 Brazil"},{"name":"Department of Genetics UFRGS  Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"J. C.","family":"Coelho","sequence":"additional","affiliation":[{"name":"Medical Genetics Unit Hospital de Clinicas de Porto Alegre  Ramiro Barcelos, 2350 Porto Alegre, RS 90035\u2010002 Brazil"},{"name":"Department of Biochemistry UFRGS  Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"C. S.","family":"Dutra\u2010Filho","sequence":"additional","affiliation":[{"name":"Department of Biochemistry UFRGS  Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"N.","family":"Blau","sequence":"additional","affiliation":[{"name":"Division of Clinical Chemistry University Children's Hospital  Zurich 8032 Switzerland"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[1993,10,26]]},"reference":[{"key":"e_1_2_1_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(74)90337-7"},{"key":"e_1_2_1_3_1","doi-asserted-by":"publisher","DOI":"10.1515\/pteridines.1993.4.1.1"},{"key":"e_1_2_1_4_1","volume-title":"Register of tetrahydrobiopterin deficiencies","author":"Dhondt JL","year":"1991"},{"key":"e_1_2_1_5_1","first-page":"557","article-title":"Tetrahydrobiopterin deficiency in two patients with phenylketonuria who did not respond adequately to dietary treatment","volume":"6","author":"Giugliani R","year":"1983","journal-title":"Braz J Genet"},{"key":"e_1_2_1_6_1","first-page":"685","article-title":"A successful therapy of hyperphenylalaninemia due to defective tetrahydrobiopterin metabolism in two siblings","volume":"9","author":"Giugliani R","year":"1986","journal-title":"Braz J Genet"},{"key":"e_1_2_1_7_1","doi-asserted-by":"crossref","first-page":"376","DOI":"10.1542\/peds.70.3.376","article-title":"Use of tetrahydrobiopterins in the treatment of hyperphenylalaninemia due to defective synthesis of tetrahydrobiopterin: evidence that peripherally administered tetrahydropterins enter the brain","volume":"70","author":"Kaufman S","year":"1982","journal-title":"Pediatrics"},{"key":"e_1_2_1_8_1","first-page":"189","article-title":"Early results of a screening program for amino acid disorders performed in South Brazil","volume":"68","author":"Jardim LB","year":"1992","journal-title":"Journal de Pediatria"},{"key":"e_1_2_1_9_1","first-page":"885","article-title":"Fluorimetric method for the determination of phenylalanine in serum","volume":"59","author":"McCaman MW","year":"1962","journal-title":"J Lab Clin Med"},{"key":"e_1_2_1_10_1","doi-asserted-by":"publisher","DOI":"10.1515\/9783110866636-024"},{"key":"e_1_2_1_11_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF01800657"},{"key":"e_1_2_1_12_1","volume-title":"Manual of Fluorimetric Clinical Procedures","author":"Phillips RE","year":"1967"},{"key":"e_1_2_1_13_1","doi-asserted-by":"publisher","DOI":"10.1136\/adc.49.3.245-b"}],"container-title":["Journal of Inherited Metabolic Disease"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1007\/BF00711622","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1007\/BF00711622","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,15]],"date-time":"2023-09-15T03:15:00Z","timestamp":1694747700000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1007\/BF00711622"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1993,10,26]]},"references-count":12,"journal-issue":{"issue":"2","published-print":{"date-parts":[[1994,3]]}},"alternative-id":["10.1007\/BF00711622"],"URL":"https:\/\/doi.org\/10.1007\/bf00711622","archive":["Portico"],"relation":{},"ISSN":["0141-8955","1573-2665"],"issn-type":[{"value":"0141-8955","type":"print"},{"value":"1573-2665","type":"electronic"}],"subject":[],"published":{"date-parts":[[1993,10,26]]}}}