{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,4]],"date-time":"2026-05-04T04:27:59Z","timestamp":1777868879880,"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>In galactos\u00e9mie subjects, treatment prevents liver and kidney failure, brain damage\nand cataracts, but total exclusion of galactose from the diet does not ensure the absence of\nall pathology. Early and well-treated children show satisfactory general health and growth,\nmake reasonable though suboptimal intellectual progress, are prone to speech defects, and\ncommonly experience visual perceptual difficulties and some social maladjustment. Two different\nmetabolites are potentially toxic: galactitol is responsible for the cataracts while galactose-\n1-phosphate causes the rest of the pathology. As both metabolites are present in the fetus\nand in postnatal life, pathological changes may develop at any time in life, even when treatment\nis strict. Owing to UDP-galactose 4'-epimerase, man can generate galactose from glucose\nfrom early embryonic life on. Therefore, transferase-deficient individuals can form galactose-\n1-phosphate in the absence of exogenous galactose, a process for which UDP-glucose\npyrophosphorylase is essential. Biosynthesis of galactose from glucose in well-treated galactos\u00e9mies\nconstitutes a mechanism of self-intoxication, not only in utero but also in adult life. The\nprognosis for some treated galactos\u00e9mies may depend on their own ability to limit this process.\nGalactos\u00e9mie girls, whether well-treated or not, run a considerable risk of developing\novarian dysfunction. Hypergonadotropinism has been diagnosed from 2 years of age to the\nthird decade. Prenatal ovarian failure is not excluded but the observed facts suggest that ovarian\nfailure is acquired after ovarian differentiation and initiation of folliculogenesis, at an\nindividual rate and possibly through continuous self-intoxication with galactose-1-phosphate.\nUp to now, mild hypergonadotropinism has been documented in only 2 galactos\u00e9mie males,\nbut the male cohort of galactos\u00e9mies studied for gonadal dysfunction is yet small.<\/jats:p>","DOI":"10.1159\/000469448","type":"journal-article","created":{"date-parts":[[2017,8,11]],"date-time":"2017-08-11T17:22:36Z","timestamp":1502472156000},"page":"37-46","source":"Crossref","is-referenced-by-count":62,"title":["Galactosemia: How Does Long-Term Treatment\nChange the Outcome?"],"prefix":"10.1159","author":[{"given":"Richard","family":"Gitzelmann","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Beat","family":"Steinmann","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\/000469448","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,4,30]],"date-time":"2026-04-30T12:49:00Z","timestamp":1777553340000},"score":1,"resource":{"primary":{"URL":"https:\/\/karger.com\/article\/doi\/10.1159\/000469448"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2017,8,11]]},"references-count":0,"URL":"https:\/\/doi.org\/10.1159\/000469448","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]]}}}