{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,10]],"date-time":"2026-06-10T08:57:25Z","timestamp":1781081845452,"version":"3.54.1"},"reference-count":23,"publisher":"Wiley","issue":"S1","license":[{"start":{"date-parts":[[2009,4,8]],"date-time":"2009-04-08T00:00:00Z","timestamp":1239148800000},"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>Glycogen storage disease type IV (GSD IV, or Andersen disease) is an autosomal recessive disorder due to the deficiency of 1,4\u2010\u03b1\u2010glucan branching enzyme (or glycogen branching enzyme, GBE1), resulting in an accumulation of amylopectin\u2010like polysaccharide in muscle, liver, heart and central and peripheral nervous system. Typically, the presentation is in childhood with liver involvement up to cirrhosis. The neuromuscular form varies in onset (congenital, perinatal, juvenile and adult) and in severity. Congenital cases are rare, and fewer than 20 cases have been described and genetically determined so far. This form is characterized by polyhydramnios, neonatal hypotonia, and neuronal involvement; hepatopathy is uncommon, and the babies usually die between 4 weeks and 4 months of age. We report the case of an infant who presented severe hypotonia, dilatative cardiomyopathy, mild hepatopathy, and brain lateral ventricle haemorrhage, features consistent with the congenital form of GSD IV. He died at one month of life of cardiorespiratory failure. Muscle biopsy and heart and liver autoptic specimens showed many vacuoles filled with PAS\u2010positive diastase\u2010resistant materials. Electron\u2010microscopic analysis showed mainly polyglucosan accumulations in all the tissues examined. Postmortem examination showed the presence of vacuolated neurons containing this abnormal polysaccharide. GBE1 biochemical activity was virtually absent in muscle and fibroblasts, and totally lacking in liver and heart as well as glycogen synthase activity. GBE1 gene sequence analysis revealed a novel homozygous nonsense mutation, p.E152X, in exon 4, correlating with the lack of enzyme activity and with the severe neonatal involvement. Our findings contribute to increasing the spectrum of mutation associated with congenital GSD IV.<\/jats:p>","DOI":"10.1007\/s10545-009-1134-8","type":"journal-article","created":{"date-parts":[[2009,4,8]],"date-time":"2009-04-08T06:24:05Z","timestamp":1239171845000},"page":"161-168","source":"Crossref","is-referenced-by-count":23,"title":["Neuropathological study of skeletal muscle, heart, liver, and brain in a neonatal form of glycogen storage disease type IV associated with a new mutation in <i>GBE1<\/i> gene"],"prefix":"10.1002","volume":"32","author":[{"given":"C.","family":"Lamperti","sequence":"first","affiliation":[{"name":"Fondazione Ospedale Maggiore Policlinico, Maniagalli and Regina Elena IRCCS Milan Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"S.","family":"Salani","sequence":"additional","affiliation":[{"name":"Dino Ferrari Center, Department of Neurological Sciences, IRCCS, Fondazione Ospedale Maggiore Policlinico, Mangiagalli and Regina Elena University of Milan Milan Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"S.","family":"Lucchiari","sequence":"additional","affiliation":[{"name":"Dino Ferrari Center, Department of Neurological Sciences, IRCCS, Fondazione Ospedale Maggiore Policlinico, Mangiagalli and Regina Elena University of Milan Milan Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"A.","family":"Bordoni","sequence":"additional","affiliation":[{"name":"Dino Ferrari Center, Department of Neurological Sciences, IRCCS, Fondazione Ospedale Maggiore Policlinico, Mangiagalli and Regina Elena University of Milan Milan Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M.","family":"Ripolone","sequence":"additional","affiliation":[{"name":"Dino Ferrari Center, Department of Neurological Sciences, IRCCS, Fondazione Ospedale Maggiore Policlinico, Mangiagalli and Regina Elena University of Milan Milan Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"G.","family":"Fagiolari","sequence":"additional","affiliation":[{"name":"Dino Ferrari Center, Department of Neurological Sciences, IRCCS, Fondazione Ospedale Maggiore Policlinico, Mangiagalli and Regina Elena University of Milan Milan Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M. 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