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Inborn deficiencies are known of each of the four enzymes of the glycolytic \u2014 gluconeogenic pathway that ensure a unidirectional flux from pyruvate to glucose: pyruvate carboxylase, phosphoenolpyruvate carboxykinase, fructose\u20101,6\u2010bisphosphatase, and glucose\u20106\u2010phosphatase. In this paper, the clinical picture, pathophysiology, diagnostic tests, genetics, treatment and prognosis of the deficiencies of fructose\u20101,6\u2010bisphosphatase and phosphoenolpyruvate carboxykinase are reviewed.<\/jats:p>","DOI":"10.1007\/bf01799108","type":"journal-article","created":{"date-parts":[[2005,6,27]],"date-time":"2005-06-27T21:01:28Z","timestamp":1119906088000},"page":"470-477","source":"Crossref","is-referenced-by-count":63,"title":["Disorders of gluconeogenesis"],"prefix":"10.1002","volume":"19","author":[{"given":"G.","family":"van den Berghe","sequence":"first","affiliation":[{"name":"Laboratory of Physiological Chemistry, International Institute of Cellular and Molecular Pathology University of Louvain Medical School  Avenue Hippocrate 75 Brussels B\u20101200 Belgium"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[1996,7]]},"reference":[{"key":"e_1_2_1_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(70)92474-8"},{"key":"e_1_2_1_3_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00711822"},{"key":"e_1_2_1_4_1","first-page":"663","article-title":"Nuclear complementation restores MtDNA levels in cultured cells from patient with MtDNA depletion","volume":"53","author":"Bodnar AG","year":"1993","journal-title":"Am J Hum Genet"},{"key":"e_1_2_1_5_1","doi-asserted-by":"publisher","DOI":"10.1042\/bj3050817"},{"key":"e_1_2_1_6_1","doi-asserted-by":"publisher","DOI":"10.1203\/00006450-199410000-00004"},{"key":"e_1_2_1_7_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF01957696"},{"key":"e_1_2_1_8_1","doi-asserted-by":"publisher","DOI":"10.1007\/978-3-662-03147-6_8"},{"key":"e_1_2_1_9_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00441851"},{"key":"e_1_2_1_10_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0021-9258(18)98373-0"},{"key":"e_1_2_1_11_1","doi-asserted-by":"publisher","DOI":"10.1006\/geno.1995.1085"},{"key":"e_1_2_1_12_1","first-page":"60","article-title":"Hepatic phosphoenolpyruvate carboxykinase deficiency \u2014 a new cause of hypoglycaemia in childhood","volume":"10","author":"Fiser RH","year":"1974","journal-title":"Pediatr Res"},{"key":"e_1_2_1_13_1","first-page":"905","volume-title":"The Metabolic and Molecular Bases of Inherited Disease","author":"Gitzelmann R","year":"1995"},{"key":"e_1_2_1_14_1","doi-asserted-by":"publisher","DOI":"10.1002\/9780470123157.ch6"},{"key":"e_1_2_1_15_1","doi-asserted-by":"publisher","DOI":"10.1042\/bj2060001"},{"key":"e_1_2_1_16_1","doi-asserted-by":"publisher","DOI":"10.1006\/bbrc.1994.1283"},{"key":"e_1_2_1_17_1","doi-asserted-by":"publisher","DOI":"10.1006\/bbrc.1995.1729"},{"key":"e_1_2_1_18_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF01963566"},{"key":"e_1_2_1_19_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00711369"},{"key":"e_1_2_1_20_1","first-page":"1","article-title":"Fructose\u20101,6\u2010bisphosphatase deficiency in Israel","volume":"27","author":"Moses SW","year":"1991","journal-title":"Israel J Med Sci"},{"key":"e_1_2_1_21_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0079-6603(08)60868-5"},{"key":"e_1_2_1_22_1","first-page":"327","volume-title":"The Metabolic and Molecular Bases of Inherited Disease","author":"Saudubray J\u2010M","year":"1995"},{"key":"e_1_2_1_23_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00179991"},{"key":"e_1_2_1_24_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1651-2227.1976.tb04890.x"},{"key":"e_1_2_1_25_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0021-9258(19)68734-X"},{"key":"e_1_2_1_26_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(72)92791-2"},{"key":"e_1_2_1_27_1","doi-asserted-by":"publisher","DOI":"10.1006\/geno.1993.1250"}],"container-title":["Journal of Inherited Metabolic Disease"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1007\/BF01799108","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,15]],"date-time":"2023-09-15T12:11:47Z","timestamp":1694779907000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1007\/BF01799108"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1996,7]]},"references-count":26,"journal-issue":{"issue":"4","published-print":{"date-parts":[[1996,7]]}},"alternative-id":["10.1007\/BF01799108"],"URL":"https:\/\/doi.org\/10.1007\/bf01799108","archive":["Portico"],"relation":{},"ISSN":["0141-8955","1573-2665"],"issn-type":[{"value":"0141-8955","type":"print"},{"value":"1573-2665","type":"electronic"}],"subject":[],"published":{"date-parts":[[1996,7]]}}}