{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,27]],"date-time":"2026-02-27T08:30:46Z","timestamp":1772181046542,"version":"3.50.1"},"reference-count":26,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[1999,4,1]],"date-time":"1999-04-01T00:00:00Z","timestamp":922924800000},"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":[[1999,4]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Red cell galactose 1\u2010phosphate (Gal\u20101\u2010P) concentrations and urinary galactitol excretion have been suggested as biochemical indices of dietary compliance in classical transferase\u2010deficient galactosaemia. We report our experience of measuring both in 32 patients over 0\u201310.9 years (median 3.45). A total of 438 blood specimens for Gal\u20101\u2010P and 383 urine specimens for galactitol assay were received; 317 pairs of specimens were collected at the same time. Concentrations of both analytes fell rapidly over the first 2\u20133 months following dietary intervention, to mean (geometric SD) levels of 225 (1.60) \u03bcmol\/L red cells for Gal\u20101\u2010P and 388 (1.19) \u03bcmol\/mmol creatinine for galactitol. Concentrations then fell exponentially over the next 7\u20138 years, with times to half\u2010disappearance of 6.3 years for Gal\u20101\u2010P and 6.4 years for galactitol, to levels of 104 (1.58) and 193 (1.36) respectively in patients aged over 10 years. Concentrations of both analytes were independent of the presence of the common Q188R mutation. Mean intra\u2010 and inter\u2010individual coefficients of variation (CV) across the range of values studied were 36% and 61% for Gal\u20101\u2010P, and 37% and 42% for galactitol. Analytical CVs were 3.6% for Gal\u20101\u2010P and 5.5% for galactitol, indicating that the major source of variability is biological. The correlation coefficient between Gal\u20101\u2010P and galactitol in paired samples overall was 0.33; the regression equation being [Galactitol] = 0.84[Gal\u20101\u2010P]+176. Serial measurements of both Gal\u20101\u2010P and galactitol may be valuable in monitoring galactosaemia, but high intra\u2010individual biological variability limits their usefulness. Standardization of sample collection times may improve this. Further work is needed to assess the predictive values of both analytes for long\u2010term outcome.<\/jats:p>","DOI":"10.1023\/a:1005493701913","type":"journal-article","created":{"date-parts":[[2002,12,21]],"date-time":"2002-12-21T22:25:23Z","timestamp":1040509523000},"page":"139-148","source":"Crossref","is-referenced-by-count":23,"title":["Biochemical monitoring of treatment for galactosaemia: Biological variability in metabolite concentrations"],"prefix":"10.1002","volume":"22","author":[{"given":"A. C. J.","family":"Hutcheson","sequence":"first","affiliation":[{"name":"Department of Clinical Chemistry The Children's Hospital  Birmingham UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"C.","family":"Murdoch\u2010Davis","sequence":"additional","affiliation":[{"name":"Department of Biomedical Genetics FJ Lewis Laboratory, Southmead Hospital  Bristol UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"A.","family":"Green","sequence":"additional","affiliation":[{"name":"Department of Clinical Chemistry The Children's Hospital  Birmingham UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M. A.","family":"Preece","sequence":"additional","affiliation":[{"name":"Department of Clinical Chemistry The Children's Hospital  Birmingham UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"J.","family":"Allen","sequence":"additional","affiliation":[{"name":"Department of Paediatrics The Children's Hospital  Birmingham UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"J. B.","family":"Holton","sequence":"additional","affiliation":[{"name":"Department of Biomedical Genetics FJ Lewis Laboratory, Southmead Hospital  Bristol UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"G.","family":"Rylance","sequence":"additional","affiliation":[{"name":"Department of Clinical Chemistry The Children's Hospital  Birmingham UK"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[1999,4]]},"reference":[{"key":"e_1_2_1_2_1","doi-asserted-by":"publisher","DOI":"10.1136\/bjo.77.3.162"},{"key":"e_1_2_1_3_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00711320"},{"key":"e_1_2_1_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(95)91745-4"},{"issue":"1","key":"e_1_2_1_5_1","first-page":"86","article-title":"Galactonate pathway in normal and GALTde ficient erythrocytes: a new target for aldose reductase inhibitors","volume":"20","author":"Berry GT","year":"1997","journal-title":"J Inher Metab Dis"},{"key":"e_1_2_1_6_1","doi-asserted-by":"publisher","DOI":"10.1136\/bmj.313.7049.106"},{"key":"e_1_2_1_7_1","doi-asserted-by":"publisher","DOI":"10.1136\/bmj.313.7059.744"},{"key":"e_1_2_1_8_1","first-page":"P136","volume-title":"Increased urinary transferrin excretion in galactosaemia: a possible indicator of control","author":"Bonham JR","year":"1994"},{"key":"e_1_2_1_9_1","doi-asserted-by":"publisher","DOI":"10.1093\/clinchem\/16.12.1028"},{"key":"e_1_2_1_10_1","first-page":"352","article-title":"A modified method for the estimation of galactose\u20101\u2010phosphate","volume":"3","author":"Dobbie JA","year":"1986","journal-title":"Ann Clin Biochem"},{"key":"e_1_2_1_11_1","first-page":"802","article-title":"Galactose\u20101\u2010phosphate in galactosemia","volume":"31","author":"Donnell GN","year":"1963","journal-title":"Pediatrics"},{"key":"e_1_2_1_12_1","doi-asserted-by":"publisher","DOI":"10.1001\/archpedi.1966.02090070098013"},{"key":"e_1_2_1_13_1","doi-asserted-by":"publisher","DOI":"10.3109\/10408368909106595"},{"key":"e_1_2_1_14_1","doi-asserted-by":"publisher","DOI":"10.1177\/000456329703400103"},{"key":"e_1_2_1_15_1","volume-title":"The Dietary and Nutritional Survey of British Adults","author":"Gregory J","year":"1990"},{"key":"e_1_2_1_16_1","first-page":"374","article-title":"Statistical principles underlying analytic goal\u2010setting in clinical medicine","volume":"72","author":"Harris EK","year":"1979","journal-title":"Am J Clin Pathol"},{"key":"e_1_2_1_17_1","first-page":"45","article-title":"Statistical aspects of reference values in clinical pathology","volume":"8","author":"Harris EK","year":"1981","journal-title":"Prog Clin Pathol"},{"key":"e_1_2_1_18_1","doi-asserted-by":"publisher","DOI":"10.1136\/adc.69.3.339"},{"key":"e_1_2_1_19_1","doi-asserted-by":"publisher","DOI":"10.1203\/00006450-199207000-00008"},{"key":"e_1_2_1_20_1","doi-asserted-by":"publisher","DOI":"10.1016\/0009-8981(72)90378-6"},{"key":"e_1_2_1_21_1","doi-asserted-by":"publisher","DOI":"10.1203\/00006450-199205000-00020"},{"key":"e_1_2_1_22_1","doi-asserted-by":"publisher","DOI":"10.1093\/clinchem\/28.2.301"},{"key":"e_1_2_1_23_1","doi-asserted-by":"publisher","DOI":"10.1007\/s004310050568"},{"key":"e_1_2_1_24_1","doi-asserted-by":"publisher","DOI":"10.1136\/adc.35.183.428"},{"key":"e_1_2_1_25_1","first-page":"967","volume-title":"The Metabolic and Molecular Bases of Inherited Disease","author":"Segal S","year":"1995"},{"key":"e_1_2_1_26_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF01800204"},{"key":"e_1_2_1_27_1","doi-asserted-by":"publisher","DOI":"10.1016\/0304-4165(68)90098-6"}],"container-title":["Journal of Inherited Metabolic Disease"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1023%2FA%3A1005493701913","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1023\/A%3A1005493701913","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,15]],"date-time":"2023-09-15T19:15:45Z","timestamp":1694805345000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1023\/A%3A1005493701913"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1999,4]]},"references-count":26,"journal-issue":{"issue":"2","published-print":{"date-parts":[[1999,4]]}},"alternative-id":["10.1023\/A:1005493701913"],"URL":"https:\/\/doi.org\/10.1023\/a:1005493701913","archive":["Portico"],"relation":{},"ISSN":["0141-8955","1573-2665"],"issn-type":[{"value":"0141-8955","type":"print"},{"value":"1573-2665","type":"electronic"}],"subject":[],"published":{"date-parts":[[1999,4]]}}}