{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,23]],"date-time":"2026-09-23T11:20:37Z","timestamp":1790162437155,"version":"4.1.0"},"reference-count":17,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2015,1,20]],"date-time":"2015-01-20T00:00:00Z","timestamp":1421712000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["J of Inher Metab Disea"],"published-print":{"date-parts":[[2015,9]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Fructose\u20101,6\u2010bisphosphatase (FBPase) deficiency is a very rare autosomal recessive disorder caused by a mutation of the fructose\u20101,6\u2010bisphosphatase gene(<jats:italic>FBP1<\/jats:italic>). Disease is mainly revealed by hypoglycemia and lactic acidosis, both symptoms being characteristic for an enzymatic block in the last steps of the gluconeogenesis. Twelve patients with FBPase deficiency were diagnosed in France in the 2001\u20102013 period, using a diagnostic system based on a single blood sample which allows simultaneous enzyme activity measurement on mononuclear white blood cells and molecular analysis. Sequencing of exons and intron\u2013exon junctions of <jats:italic>FBP1<\/jats:italic> gene was completed in unsolved cases by a gene dosage assay developed for each exon. For most patients, first metabolic decompensation occurred before two years of age with a similar sequence: the triggering factors were fever, fasting, or decrease of food intake. However, diagnosis was made late at a mean age of 3 years, as mitochondrial defects or glycogen storage diseases were firstly suspected. Enzyme activity in leukocytes was dramatically decreased (&lt;10 %). Twelve different mutations were identified in 22 alleles among them seven were novels: one missense mutation c.472C &gt; T, one point deletion c.48del, one point duplication c.865dupA, one deletion\u2010insertion, and two splice mutations (c.427\u20101del and c.825\u2009+\u20091G &gt; A). We described the first intragenic deletion in <jats:italic>FBP1<\/jats:italic> (g.97,364,754_97,382,011del) in homozygous state. Our report also confirms that this very rare disease is misdiagnosed, as other energetic defects are firstly suspected.<\/jats:p>","DOI":"10.1007\/s10545-014-9804-6","type":"journal-article","created":{"date-parts":[[2015,1,19]],"date-time":"2015-01-19T12:11:17Z","timestamp":1421669477000},"page":"881-887","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":53,"title":["Fructose 1,6\u2010bisphosphatase deficiency: clinical, biochemical and genetic features in French patients"],"prefix":"10.1002","volume":"38","author":[{"given":"Elise","family":"Lebigot","sequence":"first","affiliation":[{"name":"Service de Biochimie CHU Bic\u00eatre AP\u2010HP Le Kremlin\u2010Bic\u00eatre France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ana\u00efs","family":"Brassier","sequence":"additional","affiliation":[{"name":"Centre de r\u00e9f\u00e9rence des maladies h\u00e9r\u00e9ditaires du m\u00e9tabolisme, Institut Imagine, H\u00f4pital Necker Universit\u00e9 Paris\u2010Descartes Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mokhtar","family":"Zater","sequence":"additional","affiliation":[{"name":"Service de Biochimie CHU Bic\u00eatre AP\u2010HP Le Kremlin\u2010Bic\u00eatre France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dilek","family":"Imanci","sequence":"additional","affiliation":[{"name":"Service de G\u00e9n\u00e9tique Mol\u00e9culaire Pharmacog\u00e9n\u00e9tique, et Hormonologie, CHU Bic\u00eatre AP\u2010HP Le Kremlin\u2010Bicetre France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fran\u00e7ois","family":"Feillet","sequence":"additional","affiliation":[{"name":"Centre de r\u00e9f\u00e9rence des maladies h\u00e9r\u00e9ditaires du m\u00e9tabolisme CHU Brabois Enfants Vandoeuvre\u2010les\u2010Nancy France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Patrice","family":"Th\u00e9rond","sequence":"additional","affiliation":[{"name":"Service de Biochimie CHU Bic\u00eatre AP\u2010HP Le Kremlin\u2010Bic\u00eatre France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pascale","family":"de Lonlay","sequence":"additional","affiliation":[{"name":"Centre de r\u00e9f\u00e9rence des maladies h\u00e9r\u00e9ditaires du m\u00e9tabolisme, Institut Imagine, H\u00f4pital Necker Universit\u00e9 Paris\u2010Descartes Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Audrey","family":"Boutron","sequence":"additional","affiliation":[{"name":"Service de Biochimie CHU Bic\u00eatre AP\u2010HP Le Kremlin\u2010Bic\u00eatre France"},{"name":"Laboratoire de biochimie H\u00f4pital Bic\u00eatre 78 avenue du general Leclerc Le Kremlin Bicetre 94275 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