{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2023,10,15]],"date-time":"2023-10-15T05:10:37Z","timestamp":1697346637131},"reference-count":20,"publisher":"Wiley","issue":"9","license":[{"start":{"date-parts":[[2006,8,18]],"date-time":"2006-08-18T00:00:00Z","timestamp":1155859200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["J Paediatrics Child Health"],"published-print":{"date-parts":[[2006,9]]},"abstract":"<jats:p><jats:bold>Aim:\u2003<\/jats:bold> To determine the prevalence, the types and severity of hyperphenylalaninaemia (including phenylketonuria (PKU)) in Victoria and to report on a new treatment modality of PKU.<\/jats:p><jats:p><jats:bold>Methods:\u2003<\/jats:bold> We reviewed the medical records of all patients diagnosed with high blood phenylalanine levels by newborn screening between November 2001 and October 2004.<\/jats:p><jats:p><jats:bold>Results:\u2003<\/jats:bold> We identified 17 newborn babies with high levels of blood phenylalanine (total samples: 190\u2003835). Dihydrobiopterin reductase deficiency was excluded in all babies. Five babies had persistent phenylalanine levels of 200\u2013300, and do not receive any dietary or pharmaceutical therapy. One baby was diagnosed as having pyruvoyl tetrahydro\u2010pterin synthase deficiency. Following reports of tetrahydrobiopterin (BH<jats:sub>4<\/jats:sub>)\u2010responsive PKU, we have performed a BH<jats:sub>4<\/jats:sub> load (20\u2003mg\/kg, 6R\u20105,6,7,8\u2010tetrahydro\u2010<jats:sc>l<\/jats:sc>\u2010biopetrin dehydrochloride; Schricks Laboratories, Jona, Switzerland) in 10 newborn babies with PKU (one baby with a phenylalanine level of 2600\u2003\u00b5mol\/L was started on diet without prior load). Three babies had a significant response to BH<jats:sub>4<\/jats:sub> (&gt;35% decrease in phenylalanine level). Protein restriction (1.2\u2003g\/kg\/day) and introduction of phenylalanine\u2010free formula, in addition to BH<jats:sub>4<\/jats:sub> treatment, were necessary in one patient. The other patients maintain good metabolic control with BH<jats:sub>4<\/jats:sub> treatment only (at \u223c11\u2003mg\/kg\/day) and an intake of 2\u20133\u2003g protein per day. Of the nine babies who are on a full PKU diet, three have high phenylalanine tolerance (consistently &gt;40\u2003mg\/kg\/day).<\/jats:p><jats:p><jats:bold>Conclusion:\u2003<\/jats:bold> There is a spectrum of severity of hyperphenylalaninaemia in the population. The detection of BH<jats:sub>4<\/jats:sub>\u2010responsive PKU patients offers them a less restrictive dietary regimen and an improved quality of life, and may enable near normal life\u2010style in adolescence.<\/jats:p>","DOI":"10.1111\/j.1440-1754.2006.00909.x","type":"journal-article","created":{"date-parts":[[2006,8,18]],"date-time":"2006-08-18T10:32:05Z","timestamp":1155897125000},"page":"496-498","update-policy":"http:\/\/dx.doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":7,"title":["Three\u2010year audit of the hyperphenylalaninaemia\/phenylketonuria spectrum in Victoria"],"prefix":"10.1111","volume":"42","author":[{"given":"Avihu","family":"Boneh","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Dorothy EM","family":"Francis","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Maureen","family":"Humphrey","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Helen J","family":"Upton","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Heidi L","family":"Peters","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2006,8,18]]},"reference":[{"key":"e_1_2_6_2_2","doi-asserted-by":"publisher","DOI":"10.1515\/bchm2.1934.227.1-4.169"},{"key":"e_1_2_6_3_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(53)90473-5"},{"key":"e_1_2_6_4_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0168-9525(99)01761-8"},{"key":"e_1_2_6_5_2","doi-asserted-by":"publisher","DOI":"10.1023\/A:1005327801588"},{"key":"e_1_2_6_6_2","doi-asserted-by":"publisher","DOI":"10.1002\/ana.1226"},{"key":"e_1_2_6_7_2","doi-asserted-by":"crossref","first-page":"1580","DOI":"10.1542\/peds.112.S4.1580","article-title":"Brain imaging and proton magnetic resonance spectroscopy in patients with phenylketonuria","volume":"112","author":"Moller HE","year":"2003","journal-title":"Pediatrics"},{"key":"e_1_2_6_8_2","doi-asserted-by":"publisher","DOI":"10.1023\/A:1005621727560"},{"key":"e_1_2_6_9_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(99)70138-1"},{"key":"e_1_2_6_10_2","doi-asserted-by":"publisher","DOI":"10.1023\/A:1010596317296"},{"key":"e_1_2_6_11_2","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMoa021654"},{"key":"e_1_2_6_12_2","doi-asserted-by":"publisher","DOI":"10.1016\/S1096-7192(02)00171-3"},{"key":"e_1_2_6_13_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgme.2003.09.011"},{"key":"e_1_2_6_14_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(75)90335-9"},{"key":"e_1_2_6_15_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(76)92179-6"},{"key":"e_1_2_6_16_2","doi-asserted-by":"publisher","DOI":"10.1006\/mgme.2001.3294"},{"key":"e_1_2_6_17_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.febslet.2004.10.056"},{"key":"e_1_2_6_18_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgme.2004.06.016"},{"key":"e_1_2_6_19_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgme.2004.06.007"},{"key":"e_1_2_6_20_2","doi-asserted-by":"publisher","DOI":"10.1023\/B:BOLI.0000037351.10132.99"},{"key":"e_1_2_6_21_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(02)09334-0"}],"container-title":["Journal of Paediatrics and Child Health"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1111%2Fj.1440-1754.2006.00909.x","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/j.1440-1754.2006.00909.x","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,14]],"date-time":"2023-10-14T12:58:27Z","timestamp":1697288307000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/j.1440-1754.2006.00909.x"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2006,8,18]]},"references-count":20,"journal-issue":{"issue":"9","published-print":{"date-parts":[[2006,9]]}},"alternative-id":["10.1111\/j.1440-1754.2006.00909.x"],"URL":"https:\/\/doi.org\/10.1111\/j.1440-1754.2006.00909.x","archive":["Portico"],"relation":{},"ISSN":["1034-4810","1440-1754"],"issn-type":[{"value":"1034-4810","type":"print"},{"value":"1440-1754","type":"electronic"}],"subject":[],"published":{"date-parts":[[2006,8,18]]},"assertion":[{"value":"2006-08-18","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}