{
  "abstract": "GM1 gangliosidosis is a rare genetic disorder that affects lysosomes. It is caused by variants in the GLB1 gene, which leads to a lack of the enzyme β-galactosidase. The infantile form (Type I) is the most severe. It begins in the first months of life and has a poor prognosis. We report two cases of infantile GM1 gangliosidosis from two consanguineous families.Patient I, evaluated at 9 months, showed developmental delays that began at 3 months, along with distinct physical features and significantly reduced levels of β-galactosidase enzyme activity. Patient II, also evaluated at 4 months, presented with severe neurological symptoms, cherry-red spots, and hepatosplenomegaly. This patient also harbored a novel homozygous variant c.169T > C, p.(Tyr57His) in the GLB1 gene not previously reported. These cases show the range of symptoms in infantile GM1 gangliosidosis and provide new genetic information by identifying a novel pathogenic variant. Early diagnosis through enzyme testing and genetic analysis is vital for advising families and developing prevention strategies in high-risk groups.",
  "abstract_shown": true,
  "affiliations": [
    "Department of Medical Genetics and Molecular Medicine, Faculty of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran.",
    "Genetic of Non-Communicable Disease Research Center, Zahedan University of Medical Sciences, Zahedan, Iran.",
    "Department of Medical Genetics, Faculty of Medicine, Hormozgan University of Medical Sciences, Bandar Abbas, Iran.",
    "Genetic of Non-Communicable Disease Research Center, Zahedan University of Medical Sciences, Zahedan, Iran. anooshnaghavi@yahoo.com.",
    "Department of Medical Genetics, School of Medicine, Zahedan University of Medical Sciences, Zahedan, Iran. anooshnaghavi@yahoo.com."
  ],
  "article_type": "research article",
  "arxiv": null,
  "author_total": 4,
  "authors": [
    {
      "affs": [
        0
      ],
      "name": "Shahram Salari"
    },
    {
      "affs": [
        1
      ],
      "name": "Sara Kashani"
    },
    {
      "affs": [
        2
      ],
      "name": "Shayan Hamdollahzadeh"
    },
    {
      "affs": [
        3,
        4
      ],
      "name": "Anoosh Naghavi"
    }
  ],
  "bibtex": "https://research.draconitic.com/paper/dz331tst80r4j.bib",
  "cited_by": 0,
  "doi": "10.1186/s13039-026-00754-7",
  "fulltext_url": "https://europepmc.org/articles/PMC13721430",
  "id": "dz331tst80r4j",
  "issns": [
    "1755-8166"
  ],
  "landing_url": "https://europepmc.org/article/MED/42963574",
  "language": "eng",
  "licence": "CC-BY-NC-ND",
  "licence_label": "CC BY-NC-ND",
  "licence_source": "article",
  "licence_url": "https://creativecommons.org/licenses/by-nc-nd/4.0/",
  "metadata_licence": null,
  "native_subjects": [
    [
      "heading",
      "Brief Report"
    ],
    [
      "openalex",
      "2737|Lysosomal Storage Disorders Research"
    ]
  ],
  "openalex": "W7172245978",
  "pdf_url": "https://europepmc.org/articles/PMC13721430?pdf=render",
  "pmcid": "PMC13721430",
  "pmid": "42963574",
  "published": "2026-08-03",
  "publisher": "BMC",
  "ris": "https://research.draconitic.com/paper/dz331tst80r4j.ris",
  "sources": [
    {
      "first_seen": "2026-11-02T03:21:43Z",
      "native_id": "MED:42963574",
      "source": "europepmc",
      "url": "https://europepmc.org/article/MED/42963574"
    },
    {
      "first_seen": "2026-11-03T12:22:07Z",
      "native_id": "PMC13721430",
      "source": "pmc",
      "url": "https://doi.org/10.1186/s13039-026-00754-7"
    }
  ],
  "subjects": [
    {
      "field": "medicine",
      "origin": "openalex:2737|Lysosomal Storage Disorders Research",
      "subfield": "physiology"
    }
  ],
  "title": "A novel homozygous GLB1 pathogenic variant identified in two cases of infantile GM1 gangliosidosis.",
  "title_text": "A novel homozygous GLB1 pathogenic variant identified in two cases of infantile GM1 gangliosidosis.",
  "type": "peer-reviewed",
  "updated_at": "2026-11-03T12:22:07Z",
  "url": "https://research.draconitic.com/paper/dz331tst80r4j",
  "venue": "Molecular cytogenetics",
  "versions": []
}