{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,29]],"date-time":"2026-10-29T06:49:58Z","timestamp":1793256598414,"version":"4.5.0"},"reference-count":23,"publisher":"Wiley","issue":"S1","license":[{"start":{"date-parts":[[2009,7,9]],"date-time":"2009-07-09T00:00:00Z","timestamp":1247097600000},"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><jats:italic>Background:<\/jats:italic> Insulin\u2010resistant hyperglycaemia may occasionally complicate the clinical course of organic acidaemias. <jats:italic>Study Design:<\/jats:italic> Clinical observation. <jats:italic>Results:<\/jats:italic> Two term infants, one suffering from acute early\u2010onset methylmalonic acidaemia, the other suffering from acute early\u2010onset propionic acidaemia, presented acutely with dehydration, ketoacidosis, and hyperammonaemia. Urinary organic acid, plasma amino acids, and blood and plasma acylcarnitine analysis allowed the diagnosis of methylmalonic and propionic acidaemias. The detection of the novel c.481G&gt;A (p.Gly161Arg) and the known c.655A&gt;T (p.Asn219Tyr) <jats:italic>MUT<\/jats:italic> gene mutations identified the first patient as affected by methylmalonic acidaemia <jats:italic>mut<\/jats:italic> type. The high increase of propionylcarnitine after carnitine administration in both patients suggested a greatly elevated metabolic intoxication. Both newborns showed insulin\u2010resistant hyperglycaemia. Patient 1 died, but patient 2, after a strong reduction of glucose administration, survived. To our knowledge, this is the only patient with this complication who survived. <jats:italic>Conclusion:<\/jats:italic> Insulin\u2010resistant hyperglycaemia complicating neonatal onset of methylmalonic and propionic acidaemias is probably a marker of a serious disease. One patient with this complication survived after a strong reduction of glucose administration. Even if this is probably only a partial intervention, we hypothesize that in this situation a reduction of glucose administration can reduce almost the risk of persistent hyperglycaemia. Further studies are required to confirm our hypothesis.<\/jats:p>","DOI":"10.1007\/s10545-009-1141-9","type":"journal-article","created":{"date-parts":[[2009,7,8]],"date-time":"2009-07-08T03:35:03Z","timestamp":1247024103000},"page":"179-186","source":"Crossref","is-referenced-by-count":20,"title":["Insulin\u2010resistant hyperglycaemia complicating neonatal onset of methylmalonic and propionic acidaemias"],"prefix":"10.1002","volume":"32","author":[{"given":"L.","family":"Filippi","sequence":"first","affiliation":[{"name":"Neonatal Intensive Care Unit, Department of Critical Care Medicine \u2018A. Meyer\u2019 University Children's Hospital viale Pieraccini, 24 Florence 50134 Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"E.","family":"Gozzini","sequence":"additional","affiliation":[{"name":"Neonatal Intensive Care Unit, Department of Critical Care Medicine \u2018A. Meyer\u2019 University Children's Hospital viale Pieraccini, 24 Florence 50134 Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"C.","family":"Cavicchi","sequence":"additional","affiliation":[{"name":"Neurometabolic Unit, Department of Pediatric Neurosciences \u2018A. Meyer\u2019 University Children's Hospital Florence Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"A.","family":"Morrone","sequence":"additional","affiliation":[{"name":"Neurometabolic Unit, Department of Pediatric Neurosciences \u2018A. Meyer\u2019 University Children's Hospital Florence Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"P.","family":"Fiorini","sequence":"additional","affiliation":[{"name":"Neonatal Intensive Care Unit, Department of Critical Care Medicine \u2018A. Meyer\u2019 University Children's Hospital viale Pieraccini, 24 Florence 50134 Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"G.","family":"Donzelli","sequence":"additional","affiliation":[{"name":"Department of Pediatrics University of Florence Florence Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"S.","family":"Malvagia","sequence":"additional","affiliation":[{"name":"Neurometabolic Unit, Department of Pediatric Neurosciences \u2018A. 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