{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,20]],"date-time":"2025-10-20T17:15:50Z","timestamp":1760980550477},"reference-count":14,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[1990,7,1]],"date-time":"1990-07-01T00:00:00Z","timestamp":646790400000},"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":[[1990,7]]},"abstract":"<jats:title>Summary<\/jats:title><jats:p>Glucose carbon recycling, glucose production and glucose turnover in glycogen storage disease type I and type II patients and control subjects were determined by a novel approach \u2014 mass isotopomer analysis of plasma<jats:sup>13<\/jats:sup>C glucose. Changes in the isotopomer distribution of plasma<jats:sup>13<\/jats:sup>C glucose were found only in glycogen storage disease type III patients and control subjects. Glucose carbon recyling parameters were also derived from<jats:sup>13<\/jats:sup>C NMR spectra of plasma glucose C\u20101 splitting pattern. Our results eliminate a mechanism for glucose production in glycogen storage disease type I children involving gluconeogenesis. However, glucose release by amylo\u20101,6\u2010glucosidase activity is in agreement with our results.<\/jats:p><jats:p>A quantitative determination of the metabolic pathways of fructose conversion to glucose in normal children, and in children with disorders of fructose metabolism was derived from<jats:sup>13<\/jats:sup>C NMR measurement of plasma<jats:sup>13<\/jats:sup>C glucose isotopomer populations following [U\u2010<jats:sup>13<\/jats:sup>C]fructose administration. A direct pathway from fructose, bypassing fructose\u20101\u2010phosphate aldolase, to fructose\u20101,6\u2010diphosphate in controls and hereditary fructose intolerant children (47% and 27%, respectively) was identified. In children with fructose\u20101,6\u2010diphosphatase deficiency, only the gluconeogenic substrates were<jats:sup>13<\/jats:sup>C labelled but no synthesis of glucose from [U\u2010<jats:sup>13<\/jats:sup>C]fructose occurred. The significantly lower (by 68%) conversion of fructose to glucose in hereditary fructose intolerance, as compared to control subjects, and non\u2010conversion in fructose\u20101,6\u2010diphosphatase deficient subjects after [U\u2010<jats:sup>13<\/jats:sup>C]fructose (\u223c 20 mg\/kg) administration can serve as the basis of a safe diagnostic test for patients suspected of inborn errors of fructose metabolism and other defects involving gluconeogenesis.<\/jats:p>","DOI":"10.1007\/bf01799504","type":"journal-article","created":{"date-parts":[[2005,6,21]],"date-time":"2005-06-21T14:02:35Z","timestamp":1119362555000},"page":"466-475","source":"Crossref","is-referenced-by-count":7,"title":["Inherited disorders of carbohydrate metabolism in children studied by<sup>13<\/sup>C\u2010labelled precursors, NMR and GC\u2010MS"],"prefix":"10.1002","volume":"13","author":[{"given":"A.","family":"Lapidot","sequence":"first","affiliation":[{"name":"Department of Isotope Research Weizmann Institute of Science  Rehovot 76100 Israel"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[1990,7]]},"reference":[{"key":"e_1_2_1_2_1","first-page":"118","volume-title":"Essential fructosuria, hereditary fructose intolerance, and fructose\u20101,6\u2010diphosphatase deficiency","author":"Gitzelmann R.","year":"1985"},{"key":"e_1_2_1_3_1","doi-asserted-by":"crossref","unstructured":"Gopher A. Vaismann N. Mandel H.andLapidot A.Determination of fructose metabolic pathways in normal and fructose\u2010intolerant children: A13C NMR study using [U\u201013C] fructose.Proc. Natl. Acad. Sci. USA(1990a) in press.","DOI":"10.1073\/pnas.87.14.5449"},{"key":"e_1_2_1_4_1","unstructured":"Gopher A. Gutman A.andLapidot A.Metabolic studies in patients with fructose\u20101 6\u2010diphosphatase deficiency by [U\u201013C]fructose with13C NMR development of a diagnostic test. (1990b) (submitted for publication)."},{"key":"e_1_2_1_5_1","volume-title":"Le Metabolism du Fructose","author":"Hers H. G.","year":"1957"},{"key":"e_1_2_1_6_1","first-page":"141","volume-title":"The glycogen storage disease","author":"Howell R. R.","year":"1982"},{"key":"e_1_2_1_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/0014-5793(86)81381-3"},{"key":"e_1_2_1_8_1","doi-asserted-by":"publisher","DOI":"10.1002\/bms.1200160158"},{"key":"e_1_2_1_9_1","doi-asserted-by":"publisher","DOI":"10.1152\/ajpendo.1989.257.3.E346"},{"key":"e_1_2_1_10_1","first-page":"4990","article-title":"Estimation of glucose carbon recycling in children with glycogen storage disease. A13C NMR study using [U\u201013C]glucose","volume":"89","author":"Kalderon B.","year":"1989","journal-title":"Proc. Natl. Acad. Sci. USA"},{"key":"e_1_2_1_11_1","doi-asserted-by":"publisher","DOI":"10.1016\/0167-7799(86)90126-5"},{"key":"e_1_2_1_12_1","unstructured":"Lapidot A. Kalderon B. Korman S. H.andGutman A.In vivodiagnosis of glycogen storage diseases by [U\u201013C]glucose and13C NMR.Society of Magnetic Resonance in Medicine(1988) p.249."},{"key":"e_1_2_1_13_1","unstructured":"Lapidot A. Gopher B.andVaisman N.Fructose metabolism in hereditary fructose intolerance and control children. Society of Magnetic Resonance in Medicine (1989) p.571."},{"key":"e_1_2_1_14_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM198603133141104"},{"key":"e_1_2_1_15_1","doi-asserted-by":"publisher","DOI":"10.1152\/ajpendo.1984.247.4.E513"}],"container-title":["Journal of Inherited Metabolic Disease"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1007\/BF01799504","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1007\/BF01799504","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,17]],"date-time":"2023-09-17T02:45:41Z","timestamp":1694918741000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1007\/BF01799504"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1990,7]]},"references-count":14,"journal-issue":{"issue":"4","published-print":{"date-parts":[[1990,7]]}},"alternative-id":["10.1007\/BF01799504"],"URL":"https:\/\/doi.org\/10.1007\/bf01799504","archive":["Portico"],"relation":{},"ISSN":["0141-8955","1573-2665"],"issn-type":[{"value":"0141-8955","type":"print"},{"value":"1573-2665","type":"electronic"}],"subject":[],"published":{"date-parts":[[1990,7]]}}}