{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,17]],"date-time":"2026-08-17T15:32:52Z","timestamp":1786980772355,"version":"build-2736575974"},"reference-count":23,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2011,2,3]],"date-time":"2011-02-03T00:00:00Z","timestamp":1296691200000},"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":[[2011,4]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>Galactokinase deficiency (GALK\u2010D), an autosomal recessive disorder in the Leloir pathway, results in accumulation of galactose, galactitol, and galactonate and leads to early onset of juvenile bilateral cataract. Highest incidence of GALK\u2010D is found in Romani populations. The migration wave due to the Yugoslavian civil war has changed the spectrum of inborn errors of metabolism within Europe. Hence, newborn screening (NBS) in the Berlin region, performed from 1991 until 2010 in 683,675 neonates, revealed an increased incidence of GALK\u2010D of 1:40,000, comparable to that of galactose\u20101\u2010phosphate\u2010uridyltransferase deficiency. A total of 44% of GALK\u2010D patients were of Romani origin. All patients of Bosnian or Serbian origin were homozygous for the Romani founder mutation p.P28T. Detection of GALK\u2010D by NBS and early start of galactose\u2010restricted diet resulted in regression or prevention of cataracts. Slight cataracts without visual impairment occurred in 50% of the patients, 56% of whom were noncompliant. Further clinical symptoms, e.g., hypoglycemia, mental retardation, microcephaly, and failure to thrive, were associated with noncompliance. With treatment, galactose in blood decreased from 8,892\u2009\u00b1\u20095,243 to 36.5\u2009\u00b1\u200949.3 \u03bcmol\/l, galactose in urine from 31,820\u2009\u00b1\u200932,103 to 30.0\u2009\u00b1\u200936.1 \u03bcmol\/mmol creatinine, galactitol in RBC from 1,584\u2009\u00b1\u2009584 to 12.3\u2009\u00b1\u20099.4 \u03bcmol\/l, and galactitol in urine from 11,724\u2009\u00b1\u20094,496 to 236\u2009\u00b1\u2009116 \u03bcmol\/mmol creatinine. This is the first presentation of outcome and clinical features in GALK\u2010D patients diagnosed by NBS. As our data suggest, GALK\u2010D should be considered for inclusion in NBS in populations expected to have substantial numbers of GALK\u2010D carriers, e.g., Yugoslavian immigrants.<\/jats:p>","DOI":"10.1007\/s10545-010-9270-8","type":"journal-article","created":{"date-parts":[[2011,2,2]],"date-time":"2011-02-02T09:36:15Z","timestamp":1296639375000},"page":"399-407","source":"Crossref","is-referenced-by-count":59,"title":["Features and outcome of galactokinase deficiency in children diagnosed by newborn screening"],"prefix":"10.1002","volume":"34","author":[{"given":"Julia B.","family":"Hennermann","sequence":"first","affiliation":[{"name":"Department of Pediatrics Charit\u00e9 Universit\u00e4tsmedizin Berlin Augustenburger Platz 1 Berlin 13353 Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Peter","family":"Schadewaldt","sequence":"additional","affiliation":[{"name":"Diabetes Forschungsinstitut Heinrich Heine University Duesseldorf 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