{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,1]],"date-time":"2026-06-01T19:05:07Z","timestamp":1780340707199,"version":"3.54.1"},"reference-count":0,"publisher":"Wiley","issue":"7","license":[{"start":{"date-parts":[[1998,10,1]],"date-time":"1998-10-01T00:00:00Z","timestamp":907200000000},"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":[[1998,10]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Homocystinuria (HCU) due to cystathionine \u03b2\u2010synthase deficiency (Mudd et al 1964) was independently described by Gerritsen and colleagues (USA) and Carson and colleagues (Northern Ireland) in 1962. The worldwide frequency of HCU has been reported as 1 in 344 000, while that in Ireland is much higher at 1 in 65 000, based on newborn screening and cases detected clinically. The national newborn screening programme for HCU in Ireland was started in 1971 using the bacterial inhibition assay. A total of 1.58 million newborn infants have been screened over a 25\u2010year period up to 1996. Twenty\u2010five HCU cases were diagnosed, 21 of whom were identified on screening. The remaining four HCU cases were missed and presented clinically; three of these were breast\u2010fed and one was pyridoxine responsive. Twenty\u2010four HCU cases were pyridoxine nonresponsive. Once the status of pyridoxine responsiveness was identified, all pyridoxine nonresponsive cases, but one, were started on a low methionine, cystine\u2010enhanced diet supplemented with pyridoxine, vitamin B12 and folate. Dietary treatment commenced within 6 weeks of birth (range 8\u201342 days) for those cases detected by screening, while for the late\u2010detected cases treatment was started upon presentation and diagnosis. Biochemical control was monitored measuring deproteinized plasma methionine, free homocystine and cystine at least once a month. Review of the clinical outcome of the 25 HCU cases with 365.7 patient\u2010years of treatment revealed no HCU\u2010related complications in 18 screened, dietary\u2010treated cases. Fifteen of these had lifetime medians of free homocystine \u226411 \u03bcmol\/L (range 4\u201311). The remaining three cases with higher lifetime medians of free homocystine (18, 18 and 48 \u03bcmol\/L) have developed increasing myopia recently. Among the three screened non\u2010dietary\u2010compliant cases, two have ectopia lentis, one has osteoporosis and two have mental handicap. Of the four cases missed on screening, three presented with ectopia lentis after the age of 2 years. There were no thromboembolic events in any of the 25 HCU cases. The lifetime medians for methionine ranged from 47 to 134 \u03bcmol\/L. The Irish HCU clinical outcome data suggest that newborn screening, early commencement of dietary treatment and a lifetime median of free homocystine of \u226411 \u03bcmol\/L had significantly reduced the probability of developing complications when it was compared to the untreated HCU data (Mudd et al 1985).<\/jats:p>","DOI":"10.1023\/a:1005445132327","type":"journal-article","created":{"date-parts":[[2002,12,21]],"date-time":"2002-12-21T22:25:23Z","timestamp":1040509523000},"page":"738-747","source":"Crossref","is-referenced-by-count":132,"title":["Homocystinuria due to cystathionine \u03b2\u2010synthase deficiency in Ireland: 25 years' experience of a newborn screened and treated population with reference to clinical outcome and biochemical control"],"prefix":"10.1002","volume":"21","author":[{"given":"S.","family":"Yap","sequence":"first","affiliation":[{"name":"National Centre for Inherited Metabolic Disorders The Children's Hospital  Temple Street Dublin 1 Ireland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"E.","family":"Naughten","sequence":"additional","affiliation":[{"name":"National Centre for Inherited Metabolic Disorders The Children's Hospital  Temple Street Dublin 1 Ireland"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[1998,10]]},"container-title":["Journal of Inherited Metabolic Disease"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1023%2FA%3A1005445132327","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1023\/A%3A1005445132327","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,15]],"date-time":"2023-09-15T23:13:00Z","timestamp":1694819580000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1023\/A%3A1005445132327"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1998,10]]},"references-count":0,"journal-issue":{"issue":"7","published-print":{"date-parts":[[1998,10]]}},"alternative-id":["10.1023\/A:1005445132327"],"URL":"https:\/\/doi.org\/10.1023\/a:1005445132327","archive":["Portico"],"relation":{},"ISSN":["0141-8955","1573-2665"],"issn-type":[{"value":"0141-8955","type":"print"},{"value":"1573-2665","type":"electronic"}],"subject":[],"published":{"date-parts":[[1998,10]]}}}