{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,24]],"date-time":"2026-09-24T19:06:47Z","timestamp":1790276807150,"version":"4.1.0"},"reference-count":25,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2016,2,5]],"date-time":"2016-02-05T00:00:00Z","timestamp":1454630400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100002341","name":"Suomen Akatemia","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100002341","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100004012","name":"Jane ja Aatos Erkon S\u00e4\u00e4ti\u00f6","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100004012","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Acta Paediatrica"],"published-print":{"date-parts":[[2016,5]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Aim<\/jats:title><jats:p>Long\u2010chain 3\u2010hydroxyacyl\u2010CoA dehydrogenase deficiency (<jats:styled-content style=\"fixed-case\">LCHADD<\/jats:styled-content>) is a severe metabolic disease that, without treatment, often leads to premature death or serious handicap. The aim of this study was to evaluate the clinical course of <jats:styled-content style=\"fixed-case\">LCHADD<\/jats:styled-content> with the homozygous 1528G&gt;C (E510Q) mutation when patients underwent strict dietary treatment.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>From 1997 to 2010, 16 patients with <jats:styled-content style=\"fixed-case\">LCHADD<\/jats:styled-content> were diagnosed in Finland. They were followed up, and data were prospectively collected as they emerged. Clinical data before diagnosis were retrospectively collected from hospital records. This cohort was compared with an earlier cohort of patients diagnosed from 1976 to 1996.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>The disease presented from birth to five months of age with failure to thrive, hypotonia, hepatomegaly, metabolic acidosis, cardiomyopathy and hypoketotic hypoglycaemia. In this cohort, the therapeutic delay was 0\u201330 days and the survival rate at the end of the study was 62.5% compared with 10\u2010year survival rate of 14.3% for the earlier cohort. The survivors were in good overall condition, but some of them had developed mild retinopathy or mild neuropathy.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>Earlier diagnosis and stricter dietary regimes improved the survival rates and clinical course of patients with <jats:styled-content style=\"fixed-case\">LCHADD<\/jats:styled-content> in Finland. However, improvements in therapy are still needed to prevent the development of long\u2010term complications, such as retinopathy and neuropathy.<\/jats:p><\/jats:sec>","DOI":"10.1111\/apa.13313","type":"journal-article","created":{"date-parts":[[2015,12,17]],"date-time":"2015-12-17T14:57:08Z","timestamp":1450364228000},"page":"549-554","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":31,"title":["Earlier diagnosis and strict diets improve the survival rate and clinical course of long\u2010chain 3\u2010hydroxyacyl\u2010CoA dehydrogenase deficiency"],"prefix":"10.1111","volume":"105","author":[{"given":"Tuuli","family":"Immonen","sequence":"first","affiliation":[{"name":"Children's Hospital University of Helsinki and Helsinki University Hospital Helsinki Finland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maila","family":"Turanlahti","sequence":"additional","affiliation":[{"name":"Children's Hospital 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