{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,29]],"date-time":"2026-05-29T18:15:59Z","timestamp":1780078559119,"version":"3.54.0"},"reference-count":11,"publisher":"Wiley","issue":"S1","license":[{"start":{"date-parts":[[2009,9,20]],"date-time":"2009-09-20T00:00:00Z","timestamp":1253404800000},"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":[[2009,12]]},"abstract":"<jats:title>Summary<\/jats:title><jats:p>Adamowicz and colleagues raised the alert in 2007 about patients with atypical hereditary fructose intolerance (HFI) primarily misdiagnosed as CDG Ix. We describe a girl with neonatal hypertonia, facial trismus, absent swallowing and coughing reflexes, gastro\u2010oesophageal reflux and sporadically elevated Krebs cycle metabolites and lactate. At 14 months microcephaly and hepatomegaly were noted, with hypertransaminasaemia but normal blood coagulation, glucose, phosphate, and absent urinary reducing substances. Neurological impairment persisted. Because of hepatic and neurological abnormalities with developmental delay, Tf IEF was performed and showed a severe type 1 pattern, resulting in a wrong diagnosis of CDG. Subsequently, an aversion to fruits suggested HFI, confirmed by the finding of <jats:italic>ALDOB<\/jats:italic> mutations (p.A150P\/p.N335K). The girl improved with fructose\u2010free diet, but liver cirrhosis led to hepatic transplantation. She is now 7 years old with good evolution; facial trismus and hypertonia reversed, but microcephaly persists. Transferrin MALDI\u2010TOF MS characterization revealed underoccupation of glycosylation sites and glycan abnormalities, which reversed with dietary treatment. High maternal fructose concentrations might have caused neonatal abnormalities. Although in our patient's mother there is no fructose accumulation at present, it is possible that increased ingestion of fruits and vegetables during pregnancy, together with her heterozygosity, caused an accumulation of fructose that finally affected the fetus. We also describe slightly abnormal transferrin isoelectric focusing and MALDI\u2010TOF MS patterns of intact transferrin and <jats:italic>N<\/jats:italic>\u2010glycans in a fructose\u20101,6\u2010bisphosphatase (FBP1)\u2010deficient patient. While HFI is a well\u2010known cause of secondary CDG, we found no reports of abnormal transferrin isoelectric focusing patterns in FBP1 deficiency and we introduce this condition as a possible secondary cause for altered transferrin isoelectric focusing.<\/jats:p>","DOI":"10.1007\/s10545-009-1219-4","type":"journal-article","created":{"date-parts":[[2009,9,19]],"date-time":"2009-09-19T20:37:45Z","timestamp":1253392665000},"page":"273-278","source":"Crossref","is-referenced-by-count":32,"title":["Secondary disorders of glycosylation in inborn errors of fructose metabolism"],"prefix":"10.1002","volume":"32","author":[{"given":"E.","family":"Quintana","sequence":"first","affiliation":[{"name":"Institut de Bioqu\u00edmica Cl\u00ednica Servei de Bioqu\u00edmica i Gen\u00e8tica Molecular, Hospital Cl\u00ednic Edificio Helios III, c\/Mejia Lequerica s\/n Barcelona 08028 Spain"},{"name":"CIBER de Enfermedades Raras (CIBERER) Barcelona Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"L.","family":"Sturiale","sequence":"additional","affiliation":[{"name":"CNR\u2014Istituto per la Chimica e la Tecnologia dei Polimeri ICTP Catania Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"R.","family":"Montero","sequence":"additional","affiliation":[{"name":"Servei de Bioqu\u00edmica Hospital Sant Joan de D\u00e9u Barcelona Spain"},{"name":"CIBER de Enfermedades Raras (CIBERER) Barcelona Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"F.","family":"Andrade","sequence":"additional","affiliation":[{"name":"Servicio de Pediatr\u00eda Hospital de Cruces Bilbao Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"C.","family":"Fernandez","sequence":"additional","affiliation":[{"name":"Institut de Bioqu\u00edmica Cl\u00ednica Servei de Bioqu\u00edmica i Gen\u00e8tica Molecular, Hospital Cl\u00ednic Edificio Helios III, c\/Mejia Lequerica s\/n Barcelona 08028 Spain"},{"name":"CIBER de Enfermedades Raras (CIBERER) Barcelona Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M. L.","family":"Couce","sequence":"additional","affiliation":[{"name":"Servicio de Pediatr\u00eda Hospital Universitario de Santiago Santiago de Compostela Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"R.","family":"Barone","sequence":"additional","affiliation":[{"name":"CNR\u2014Istituto per la Chimica e la Tecnologia dei Polimeri ICTP Catania Italy"},{"name":"Center for Inherited Metabolic Diseases, Department of Pediatrics University of Catania Catania Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"L.","family":"Aldamiz\u2010Echevarria","sequence":"additional","affiliation":[{"name":"Servicio de Pediatr\u00eda Hospital de Cruces Bilbao Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"A.","family":"Ribes","sequence":"additional","affiliation":[{"name":"Institut de Bioqu\u00edmica Cl\u00ednica Servei de Bioqu\u00edmica i Gen\u00e8tica Molecular, Hospital Cl\u00ednic Edificio Helios III, c\/Mejia Lequerica s\/n Barcelona 08028 Spain"},{"name":"CIBER de Enfermedades Raras (CIBERER) Barcelona Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"R.","family":"Artuch","sequence":"additional","affiliation":[{"name":"Servei de Bioqu\u00edmica Hospital Sant Joan de D\u00e9u Barcelona Spain"},{"name":"CIBER de Enfermedades Raras (CIBERER) Barcelona Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"P.","family":"Briones","sequence":"additional","affiliation":[{"name":"Institut de Bioqu\u00edmica Cl\u00ednica Servei de Bioqu\u00edmica i Gen\u00e8tica Molecular, Hospital Cl\u00ednic Edificio Helios III, c\/Mejia Lequerica s\/n Barcelona 08028 Spain"},{"name":"Consejo Superior de Investigaciones Cient\u00edficas Barcelona Spain"},{"name":"CIBER de Enfermedades Raras (CIBERER) Barcelona Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2009,9,20]]},"reference":[{"key":"e_1_2_7_2_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10545-007-0569-z"},{"key":"e_1_2_7_3_1","doi-asserted-by":"publisher","DOI":"10.1515\/CCLM.2000.143"},{"key":"e_1_2_7_4_1","doi-asserted-by":"publisher","DOI":"10.1021\/pr050328x"},{"key":"e_1_2_7_5_1","doi-asserted-by":"publisher","DOI":"10.1203\/00006450-199611000-00017"},{"key":"e_1_2_7_6_1","first-page":"1601","volume-title":"The metabolic and molecular bases of inherited disease","author":"Jaeken J","year":"2001"},{"key":"e_1_2_7_7_1","doi-asserted-by":"publisher","DOI":"10.1093\/glycob\/cwj067"},{"key":"e_1_2_7_8_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.39.9.e56"},{"key":"e_1_2_7_9_1","first-page":"1489","volume-title":"The metabolic and molecular bases of inherited disease","author":"Steinmann B","year":"2001"},{"key":"e_1_2_7_10_1","doi-asserted-by":"publisher","DOI":"10.1093\/glycob\/cwj021"},{"key":"e_1_2_7_11_1","doi-asserted-by":"publisher","DOI":"10.1016\/0006-291X(92)92278-6"},{"key":"e_1_2_7_12_1","doi-asserted-by":"publisher","DOI":"10.1373\/clinchem.2003.022541"}],"container-title":["Journal of Inherited Metabolic Disease"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1007\/s10545-009-1219-4","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1007\/s10545-009-1219-4","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1007\/s10545-009-1219-4","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,15]],"date-time":"2023-09-15T03:18:56Z","timestamp":1694747936000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1007\/s10545-009-1219-4"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2009,9,20]]},"references-count":11,"journal-issue":{"issue":"S1","published-print":{"date-parts":[[2009,12]]}},"alternative-id":["10.1007\/s10545-009-1219-4"],"URL":"https:\/\/doi.org\/10.1007\/s10545-009-1219-4","archive":["Portico"],"relation":{},"ISSN":["0141-8955","1573-2665"],"issn-type":[{"value":"0141-8955","type":"print"},{"value":"1573-2665","type":"electronic"}],"subject":[],"published":{"date-parts":[[2009,9,20]]}}}