{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,26]],"date-time":"2026-03-26T08:40:48Z","timestamp":1774514448030,"version":"3.50.1"},"reference-count":18,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2026,3,5]],"date-time":"2026-03-05T00:00:00Z","timestamp":1772668800000},"content-version":"vor","delay-in-days":4,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"},{"start":{"date-parts":[[2026,3,1]],"date-time":"2026-03-01T00:00:00Z","timestamp":1772323200000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["JIMD Reports"],"published-print":{"date-parts":[[2026,3]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:p>\n                    GM1 gangliosidosis is a lysosomal storage disease (LSD) caused by \u03b2\u2010galactosidase deficiency, characterized by the accumulation of gangliosides in various tissues. Among different GM1 forms (infantile form, late\u2010infantile and juvenile form, and late\u2010onset form), the infantile form is the most severe: despite an early clinical onset with rapid neurodegeneration, coarse face, abdominal visceromegaly and skeletal abnormalities, the diagnosis is usually delayed, given the lack of recognized early disease\u2010specific markers. We report the case of a newborn presenting with mild edema of hands and feet, mild transient hypoalbuminemia and isolated hyperphosphatasemia at three weeks of life. The first cardiological evaluation showed mild mitral regurgitation. Despite the absence of neurological symptoms, organomegaly, or a coarse face, the turgid consistency of the limbs, together with mitral regurgitation and persistent hyperphosphatasemia, led to multiorgan investigations with discovery of bilateral cherry\u2010red spots and a beak\u2010shaped lumbar vertebra. The cardiological follow\u2010up revealed a dysplastic mitral valve. In the suspicion of a lysosomal disease, biochemical investigations were planned. An altered profile of urinary oligosaccharides, along with low \u03b2\u2010galactosidase activity in leukocytes, led to the diagnosis of infantile GM1 gangliosidosis at 3\u2009months of age. The\n                    <jats:italic>GLB1<\/jats:italic>\n                    gene analysis confirmed the diagnosis. Genetic testing for GLB1 should be considered in cases of persistent hyperphosphatemia, especially if it is associated with any other clinical indicator of GM1, such as limb edema.\n                  <\/jats:p>","DOI":"10.1002\/jmd2.70075","type":"journal-article","created":{"date-parts":[[2026,3,8]],"date-time":"2026-03-08T16:26:14Z","timestamp":1772987174000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Alkaline Phosphatase and Infantile\n                    <scp>GM1<\/scp>\n                    Gangliosidosis: A Simple Biomarker for a Complex Disease?"],"prefix":"10.1002","volume":"67","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-9640-539X","authenticated-orcid":false,"given":"Laura","family":"Fiori","sequence":"first","affiliation":[{"name":"Department of Pediatrics Vittore Buzzi Children's Hospital  Milan Italy"},{"name":"Metabolic Diseases Unit, Department of Pediatrics Vittore Buzzi Children's Hospital  Milan Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Massimiliano","family":"Turzi","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Vittore Buzzi Children's Hospital  Milan Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Veronica Maria","family":"Tagi","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Vittore Buzzi Children's Hospital  Milan Italy"},{"name":"Metabolic Diseases Unit, Department of Pediatrics Vittore Buzzi Children's Hospital  Milan Italy"},{"name":"Department of Biomedical and Clinical Science University of Milan  Milan Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Laura","family":"Asnaghi","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Vittore Buzzi Children's Hospital  Milan Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Eleonora","family":"Bonaventura","sequence":"additional","affiliation":[{"name":"COALA (Center for Diagnosis and Treatment of Leukodystrophies), unit of Pediatric Neurology, Vittore Buzzi Children's Hospital  Milan Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Davide","family":"Tonduti","sequence":"additional","affiliation":[{"name":"Department of Biomedical and Clinical Science University of Milan  Milan Italy"},{"name":"COALA (Center for Diagnosis and Treatment of Leukodystrophies), unit of Pediatric Neurology, Vittore Buzzi Children's Hospital  Milan Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Luigina","family":"Spaccini","sequence":"additional","affiliation":[{"name":"Clinical Genetics Unit, Department of Obstetrics and Gynecology, Buzzi Children's Hospital University of Milan  Milan Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Laura Assunta","family":"Saielli","sequence":"additional","affiliation":[{"name":"Center of Functional Genomics and Rare Diseases Vittore Buzzi Children's Hospital  Milan Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Chiara","family":"Montanari","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Vittore Buzzi Children's Hospital  Milan Italy"},{"name":"Metabolic Diseases Unit, Department of Pediatrics Vittore Buzzi Children's Hospital  Milan Italy"},{"name":"Department of Biomedical and Clinical Science University of Milan  Milan Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Francesca","family":"Cairello","sequence":"additional","affiliation":[{"name":"Pediatric and Pediatric Emergency Unit, Pediatric Cardiology Service, the Children Hospital, AO SS Antonio e Biagio e C. Arrigo  Alessandria Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Savina","family":"Mannarino","sequence":"additional","affiliation":[{"name":"Pediatric Cardiology Unit, Department of Pediatric Buzzi Children's Hospital  Milan Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Matilde","family":"Ferrario","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Vittore Buzzi Children's Hospital  Milan Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Alessandra","family":"Del Longo","sequence":"additional","affiliation":[{"name":"Pediatric Ophthalmology Unit, ASST Grande Ospedale Metropolitano Niguarda  Milan Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Marcello","family":"Napolitano","sequence":"additional","affiliation":[{"name":"Department of Radiology and Neuroradiology Vittore Buzzi Children's Hospital, University of Milan  Milan 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