{
  "abstract": "Background: Plasma globotriaosylsphingosine (lyso-Gb3) concentrations decrease after enzyme replacement therapy (ERT) in patients with Fabry disease (FD). However, it remains unclear whether absolute or relative changes in lyso-Gb3 concentrations better reflect treatment response. We evaluated the clinical relevance of absolute and relative changes in lyso-Gb3 concentrations after ERT. Methods: This retrospective observational study included 16 patients with FD (8 males and 8 females) with elevated baseline lyso-Gb3 concentrations and paired measurements at baseline and one year after ERT. Absolute and relative changes in lyso-Gb3 concentrations were assessed, and their relationships with baseline lyso-Gb3 concentrations were examined. Kidney outcomes, including the estimated glomerular filtration rate (eGFR) slope and percent change in urinary albumin-to-creatinine ratio (UACR), were analyzed using linear mixed-effects models. Results: ERT significantly reduced plasma lyso-Gb3 concentrations in both sexes. Absolute changes in lyso-Gb3 concentrations were strongly correlated with baseline lyso-Gb3 concentrations, particularly in males, whereas relative changes showed weaker dependence on baseline concentrations. In males, larger relative reductions in lyso-Gb3 concentrations were associated with a slower decline in eGFR. Smaller relative reductions were associated with greater increases in UACR in the overall cohort, but in males this was only a nonsignificant trend. Conclusion: Relative changes in lyso-Gb3 concentrations after ERT appeared to be less influenced by baseline lyso-Gb3 concentrations than absolute changes. Associations with kidney outcomes were observed in males but were not demonstrated in females. Relative changes in lyso-Gb3 concentrations may provide additional information for assessing treatment response in FD.",
  "abstract_shown": true,
  "affiliations": [
    "Division of Nephrology, Kobe University Graduate School of Medicine, Kobe, Japan",
    "Corresponding author at: Division of Nephrology, Kobe University Graduate School of Medicine, 7-5-2, Kusunoki-cho, Chuo-ku, Kobe, Hyogo 650-0017, Japan."
  ],
  "article_type": null,
  "arxiv": null,
  "author_total": 6,
  "authors": [
    {
      "affs": [
        0
      ],
      "name": "Toshiyuki Hirai"
    },
    {
      "affs": [
        0
      ],
      "name": "Shunsuke Goto"
    },
    {
      "affs": [
        0
      ],
      "name": "Hayaki Okamoto"
    },
    {
      "affs": [
        0
      ],
      "name": "Momoko Tabuchi"
    },
    {
      "affs": [
        0
      ],
      "name": "Mika Fujita"
    },
    {
      "affs": [
        1
      ],
      "name": "Hideki Fujii"
    }
  ],
  "bibtex": "https://research.draconitic.com/paper/a3dgrt90e6f3c.bib",
  "cited_by": 0,
  "doi": "10.1016/j.ymgmr.2026.101378",
  "fulltext_url": "http://www.sciencedirect.com/science/article/pii/S221442692600090X",
  "id": "a3dgrt90e6f3c",
  "issns": [
    "2214-4269"
  ],
  "landing_url": "https://doi.org/10.1016/j.ymgmr.2026.101378",
  "language": "en",
  "licence": "CC-BY",
  "licence_label": "CC BY",
  "licence_source": "journal",
  "licence_url": "https://creativecommons.org/licenses/by/4.0/",
  "metadata_licence": null,
  "native_subjects": [
    [
      "lcc",
      "QH301-705.5"
    ],
    [
      "lcc",
      "R5-920"
    ],
    [
      "openalex",
      "2737|Lysosomal Storage Disorders Research"
    ]
  ],
  "openalex": "W7224092656",
  "pdf_url": null,
  "pmcid": null,
  "pmid": null,
  "published": "2026-10-31",
  "publisher": "Elsevier",
  "ris": "https://research.draconitic.com/paper/a3dgrt90e6f3c.ris",
  "sources": [
    {
      "first_seen": "2026-10-31T14:22:26Z",
      "native_id": "0c72a8cf52ab490aa514db53f67dc689",
      "source": "doaj",
      "url": "https://doi.org/10.1016/j.ymgmr.2026.101378"
    }
  ],
  "subjects": [
    {
      "field": "medicine",
      "origin": "openalex:2737|Lysosomal Storage Disorders Research",
      "subfield": "physiology"
    }
  ],
  "title": "Relative versus absolute globotriaosylsphingosine changes and kidney outcomes in Fabry disease",
  "title_text": "Relative versus absolute globotriaosylsphingosine changes and kidney outcomes in Fabry disease",
  "type": "peer-reviewed",
  "updated_at": "2026-10-31T14:22:26Z",
  "url": "https://research.draconitic.com/paper/a3dgrt90e6f3c",
  "venue": "Molecular Genetics and Metabolism Reports",
  "versions": []
}