{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,11]],"date-time":"2025-10-11T00:51:45Z","timestamp":1760143905048,"version":"build-2065373602"},"reference-count":27,"publisher":"MDPI AG","issue":"5","license":[{"start":{"date-parts":[[2024,2,24]],"date-time":"2024-02-24T00:00:00Z","timestamp":1708732800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Diagnostics"],"abstract":"<jats:p>Gangliosidosis (ORPHA: 79255) is an autosomal recessive lysosomal storage disease (LSD) with a variable phenotype and an incidence of 1:200000 live births. The underlying genotype is comprised GLB1 mutations that lead to \u03b2-galactosidase deficiency and subsequently to the accumulation of monosialotetrahexosylganglioside (GM1) in the brain and other organs. In total, two diseases have been linked to this gene mutation: Morquio type B and Gangliosidosis. The most frequent clinical manifestations include dysmorphic facial features, nervous and skeletal systems abnormalities, hepatosplenomegaly, and cardiomyopathies. The correct diagnosis of GM1 is a challenge due to the overlapping clinical manifestation between this disease and others, especially in infants. Therefore, in the current study we present the case of a 3-month-old male infant, admitted with signs and symptoms of respiratory distress alongside rapid progressive heart failure, with minimal neurologic and skeletal abnormalities, but with cardiovascular structural malformations. The atypical clinical presentation raised great difficulties for our diagnostic team. Unfortunately, the diagnostic of GM1 was made postmortem based on the DBS test and we were able to correlate the genotype with the unusual phenotypic findings.<\/jats:p>","DOI":"10.3390\/diagnostics14050491","type":"journal-article","created":{"date-parts":[[2024,2,26]],"date-time":"2024-02-26T08:59:01Z","timestamp":1708937941000},"page":"491","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Congenital Heart Malformations Masked by Infantile Gangliosidosis\u2014Case Report and Growing Evidence for Metabolic Disease-Associated Aortopathies"],"prefix":"10.3390","volume":"14","author":[{"given":"Dana Elena","family":"M\u00eendru","sequence":"first","affiliation":[{"name":"Department of Mother and Child Medicine, University of Medicine and Pharmacy \u201cGr. T. Popa\u201d, 700115 Iasi, Romania"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3018-8011","authenticated-orcid":false,"given":"Elena","family":"\u021aarc\u0103","sequence":"additional","affiliation":[{"name":"Department of Surgery II\u2014Pediatric Surgery, University of Medicine and Pharmacy \u201cGr. T. Popa\u201d, 700115 Iasi, Romania"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Elena Emanuela","family":"Braha","sequence":"additional","affiliation":[{"name":"Department of Genetics Endocrinology, National Institute of Endocrinology CI Parhon, 011863 Bucure\u015fti, Romania"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3880-4296","authenticated-orcid":false,"given":"Alexandrina-\u0218tefania","family":"Curp\u0103n","sequence":"additional","affiliation":[{"name":"Department of Biology, Faculty of Biology, \u201cAlexandru Ioan Cuza\u201d University of Iasi, 700505 Iasi, Romania"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Solange Tamara","family":"Ro\u0219u","sequence":"additional","affiliation":[{"name":"Department of Nursing, University of Medicine and Pharmacy \u201cGr. T. Popa\u201d, 700115 Iasi, Romania"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8657-378X","authenticated-orcid":false,"given":"Dana-Teodora","family":"Anton-P\u0103duraru","sequence":"additional","affiliation":[{"name":"Department of Mother and Child Medicine, University of Medicine and Pharmacy \u201cGr. T. Popa\u201d, 700115 Iasi, Romania"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Heidrun","family":"Adumitr\u0103chioaiei","sequence":"additional","affiliation":[{"name":"Department of Mother and Child Medicine, University of Medicine and Pharmacy \u201cGr. T. Popa\u201d, 700115 Iasi, Romania"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Valentin","family":"Bernic","sequence":"additional","affiliation":[{"name":"Department of Surgery II, \u201cSaint Spiridon\u201d Hospital, 700115 Iasi, Romania"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ioana-Alexandra","family":"P\u0103dure\u021b","sequence":"additional","affiliation":[{"name":"\u201cSfanta Maria\u201d Emergency Children Hospital, 700309 Iasi, Romania"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5676-0864","authenticated-orcid":false,"given":"Alina Costina","family":"Luca","sequence":"additional","affiliation":[{"name":"Department of Mother and Child Medicine, University of Medicine and Pharmacy \u201cGr. T. Popa\u201d, 700115 Iasi, Romania"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1968","published-online":{"date-parts":[[2024,2,24]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","unstructured":"Blau, N., Duran, M., Gibson, M.K., and Dionisi-Vici, C. (2014). Physician\u2019s Guide to the Diagnosis, Treatment, and Follow-Up of Inherited Metabolic Diseases, Springer.","DOI":"10.1007\/978-3-642-40337-8"},{"key":"ref_2","first-page":"133","article-title":"Practical Management of Lysosomal Storage Disorders (LSDs)","volume":"4","author":"Tanpaiboon","year":"2019","journal-title":"Transl. Sci. 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