{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,13]],"date-time":"2026-05-13T19:50:12Z","timestamp":1778701812382,"version":"3.51.4"},"reference-count":19,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[1995,1,6]],"date-time":"1995-01-06T00:00:00Z","timestamp":789350400000},"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":[[1995,9]]},"abstract":"<jats:title>Summary<\/jats:title><jats:p>Classical galactosaemia, deficiency of galactose\u20101\u2010phosphate uridyltransferase (GALT), is characterized by acute symptoms of hepatomegaly, jaundice, sepsis, cataracts and growth retardation. Treatment with dietary galactose restriction corrects these complications immediately; however, most of these children develop long\u2010term complications of verbal dyspraxia, mental retardation and ovarian failure. Our previous molecular study showed that the most common mutation of the GALT gene is a missense mutation of Q188R (replacement of glutamine\u2010188 by arginine) in approximately 60\u201365% of the German galactosaemic population. The coding region of GALT was amplified by the polymerase chain reaction from genomic DNA of classical galactosaemic individuals, who are negative or heterozygous for Q188R, and was further characterized by direct sequencing. Three new disease\u2010causing mutations, two missense and a stop codon mutation, were identified in three patients from two families with mild galactosaemic variants: firstly R67C, replacement of arginine\u201067 by cysteine and W316X, the stop codon at tryptophan\u2010316 in one male; secondly A330V, replacement of alanine\u2010330 by valine in two female siblings. In the first family the patient was also heterozygous for the polymorphism N314D and in the second family both girls were compound heterozygotes for Q188R and A330V. All three galactosaemic individuals have a considerable amount of the residual GALT activity in RBC and the galactose\u20101\u2010phosphate (GALP) level decreased much faster on treatment than that of other galactosaemic patients with missense mutations such as Q188R. The clinical and biochemical data of these patients were much more favourable in comparison with those of two female galactosaemic individuals, one homozygous for L195P and the other compound heterozygous for Q188R and L195P. These three missense mutations (R67C, L195P and A330V) also occur in highly conserved regions. These observations suggest that the phenotypic variation in galactosaemic individuals may be due to different molecular aetiologies.<\/jats:p>","DOI":"10.1007\/bf02436001","type":"journal-article","created":{"date-parts":[[2006,8,1]],"date-time":"2006-08-01T17:22:48Z","timestamp":1154452968000},"page":"567-576","source":"Crossref","is-referenced-by-count":13,"title":["Mutations in the galactose\u20101\u2010phosphate uridyltransferase gene of two families with mild galactosaemia variants"],"prefix":"10.1002","volume":"18","author":[{"given":"M.","family":"Sommer","sequence":"first","affiliation":[{"name":"Medical Genetics Unit HCPA  Porto Alegre Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"B. S.","family":"Gathof","sequence":"additional","affiliation":[{"name":"Medizinische Poliklinik  Munich"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"T.","family":"Podskarbi","sequence":"additional","affiliation":[{"name":"Medizinisch Immunologische Laboratorien  Munich"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"R.","family":"Giugliani","sequence":"additional","affiliation":[{"name":"Medical Genetics Unit HCPA  Porto Alegre Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"B.","family":"Kleinlein","sequence":"additional","affiliation":[{"name":"Children's Hospital University of Munich  Munich Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Y. S.","family":"Shin","sequence":"additional","affiliation":[{"name":"Children's Hospital University of Munich  Munich Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[1995,1,6]]},"reference":[{"key":"e_1_2_1_2_1","first-page":"1030","article-title":"A common mutation associated with the Duarte galactosemia allele","volume":"54","author":"Elas LJ","year":"1994","journal-title":"Am J Hum Genet"},{"key":"e_1_2_1_3_1","first-page":"630","article-title":"Galactosemia: a strategy to identify new biochemical phenotypes and molecular genotypes","volume":"56","author":"Elsas LJ","year":"1995","journal-title":"Am J Hum Genet"},{"key":"e_1_2_1_4_1","doi-asserted-by":"crossref","unstructured":"GathofBS SommerM PodskarbiT et al (1995)Characterization of two stop codon mutations in the galactose\u20101\u2010phosphate uridyltransferase gene of three male galactosemic patients with severe clinical manifestation.Hum Genet in press..","DOI":"10.1007\/BF00210306"},{"key":"e_1_2_1_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(94)70197-0"},{"key":"e_1_2_1_6_1","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/14.19.7705"},{"key":"e_1_2_1_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0888-7543(05)80244-7"},{"key":"e_1_2_1_8_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00201593"},{"key":"e_1_2_1_9_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00735422"},{"key":"e_1_2_1_10_1","unstructured":"PodskarbiT ShinYS ReichardtJ(1994b)Progress toward a genotype\/phenotype correlation in classic galactosemia.Abstracts of the 32nd Annual Symposium of the SSIEMp.201.."},{"key":"e_1_2_1_11_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.1380010303"},{"key":"e_1_2_1_12_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.88.7.2633"},{"key":"e_1_2_1_13_1","doi-asserted-by":"publisher","DOI":"10.1021\/bi00139a002"},{"key":"e_1_2_1_14_1","doi-asserted-by":"publisher","DOI":"10.1016\/0888-7543(92)90453-Y"},{"key":"e_1_2_1_15_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.74.12.5463"},{"key":"e_1_2_1_16_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF02072514"},{"key":"e_1_2_1_17_1","first-page":"267","volume-title":"Techniques in Diagnostic Human Biochemical Genetics","author":"Shin YS","year":"1991"},{"key":"e_1_2_1_18_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF02143808"},{"key":"e_1_2_1_19_1","doi-asserted-by":"crossref","unstructured":"ShinYS GathofBS PodskarbiT S\u00f3mmerM GiuglianiR GresserU(1995)Three mutations in the galactose\u20101\u2010phosphate uridyltransferase gene of three families with mild galactosemia.Eur J Pediatr in press..","DOI":"10.1007\/BF01955270"},{"key":"e_1_2_1_20_1","doi-asserted-by":"publisher","DOI":"10.1002\/yea.320010108"}],"container-title":["Journal of Inherited Metabolic Disease"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1007\/BF02436001","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1007\/BF02436001","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,15]],"date-time":"2023-09-15T01:55:19Z","timestamp":1694742919000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1007\/BF02436001"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1995,1,6]]},"references-count":19,"journal-issue":{"issue":"5","published-print":{"date-parts":[[1995,9]]}},"alternative-id":["10.1007\/BF02436001"],"URL":"https:\/\/doi.org\/10.1007\/bf02436001","archive":["Portico"],"relation":{},"ISSN":["0141-8955","1573-2665"],"issn-type":[{"value":"0141-8955","type":"print"},{"value":"1573-2665","type":"electronic"}],"subject":[],"published":{"date-parts":[[1995,1,6]]}}}