{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,10]],"date-time":"2026-03-10T11:09:36Z","timestamp":1773140976254,"version":"3.50.1"},"reference-count":19,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2005,1,1]],"date-time":"2005-01-01T00:00:00Z","timestamp":1104537600000},"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":[[2005,1]]},"abstract":"<jats:title>Summary<\/jats:title><jats:p>Fabry disease is an X\u2010linked disorder of glycosphingolipid metabolism resulting from a deficiency of the lysosomal enzyme <jats:italic>\u03b1<\/jats:italic>\u2010galactosidase A. This deficiency leads to the progressive accumulation, in lysosomes of visceral tissues and in body fluids of hemizygotes, of the glycosphingolipids globotriaosylceramide (CTH, Gb<jats:sub>3<\/jats:sub> or GL\u20103) and galabiosylceramide (CDH) and to a lesser extent the blood group AB and B related glycolipids. Elevated levels of the glycosphingolipids are found in the urine of hemizygous males with the classic phenotype, but it is not known whether all symptomatic or asymptomatic heterozygotes have elevated levels. We have therefore measured CTH and CDH quantitatively in a multiplex assay using tandem mass spectrometry in urine from a large cohort (44) of genetically proven or obligate heterozygotes including four with the N215S mutation, from classic hemizygotes (28), from cardiac variant hemizygotes with the N215S mutation (6) and from normal controls. The levels of CTH and CDH were related to both creatinine and sphingomyelin. Urinary CTH was elevated in all 28 classic hemizygotes but only in 4\/6 of the cardiac variants. The level was within or just above the normal reference range in the four individuals heterozygous for the N215S mutation but was elevated in 38\/40 of the other heterozygotes. Similar results were obtained for CDH, except that only 34\/40 heterozygotes had an elevated level. The level of CDH was not elevated in the four heterozygotes and 4\/6 of the hemizygotes for the N215S mutation. Combining the levels of CTH and CDH did not improve the discrimination of heterozygotes from controls. The ratio of CDH to CTH was higher in heterozygotes than in hemizygotes. Measurement of urinary CTH gave the best discrimination of heterozygotes from controls.<\/jats:p>","DOI":"10.1007\/s10545-005-5263-4","type":"journal-article","created":{"date-parts":[[2005,2,8]],"date-time":"2005-02-08T17:14:47Z","timestamp":1107882887000},"page":"35-48","source":"Crossref","is-referenced-by-count":68,"title":["Measurement of urinary CDH and CTH by tandem mass spectrometry in patients hemizygous and heterozygous for Fabry disease"],"prefix":"10.1002","volume":"28","author":[{"given":"K.","family":"Mills","sequence":"first","affiliation":[{"name":"Biochemistry, Endocrinology and Metabolism Unit, Institute of Child Health University College London 30 Guilford Street London WC1N 1EH UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"P.","family":"Morris","sequence":"additional","affiliation":[{"name":"Biochemistry, Endocrinology and Metabolism Unit, Institute of Child Health University College London 30 Guilford Street London WC1N 1EH UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"P.","family":"Lee","sequence":"additional","affiliation":[{"name":"Charles Dent Metabolic Unit National Hospital for Neurology and Neurosurgery Queen Square London"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"A.","family":"Vellodi","sequence":"additional","affiliation":[{"name":"Metabolic Unit Great Ormond Street Hospital for Children NHS Trust Great Ormond Street London"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"S.","family":"Waldek","sequence":"additional","affiliation":[{"name":"Nephrology Department Hope Hospital Salford, Manchester UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"E.","family":"Young","sequence":"additional","affiliation":[{"name":"Biochemistry, Endocrinology and Metabolism Unit, Institute of Child Health University College London 30 Guilford Street London WC1N 1EH UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"B.","family":"Winchester","sequence":"additional","affiliation":[{"name":"Biochemistry, Endocrinology and Metabolism Unit, Institute of Child Health University College London 30 Guilford Street London WC1N 1EH UK"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2005,1]]},"reference":[{"key":"e_1_2_1_2_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2133.1973.tb02951.x"},{"key":"e_1_2_1_3_1","doi-asserted-by":"publisher","DOI":"10.1006\/abio.1999.4002"},{"key":"e_1_2_1_4_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM196705252762101"},{"key":"e_1_2_1_5_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.83.13.4859"},{"key":"e_1_2_1_6_1","doi-asserted-by":"publisher","DOI":"10.1002\/rcm.728"},{"key":"e_1_2_1_7_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM197104082841401"},{"key":"e_1_2_1_8_1","doi-asserted-by":"publisher","DOI":"10.1006\/rwgn.2001.0443"},{"key":"e_1_2_1_9_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM200107053450102"},{"key":"e_1_2_1_10_1","first-page":"86","article-title":"A typical Fabry's disease. 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