{
  "abstract": "Background\n\nSLC35A2-CDG is a rare X-linked congenital disorder of glycosylation caused by impaired UDP-galactose transport into the Golgi apparatus, resulting in multisystem involvement with prominent neurological manifestations. Although oral galactose supplementation has been proposed as a targeted therapy, its long-term efficacy and safety remain unclear.Methods\n\nWe report a longitudinal study of a female patient with SLC35A2-CDG treated with oral D-galactose supplementation over seven years. Clinical outcomes were assessed using the Nijmegen Pediatric CDG Rating Scale (NPCRS), and glycosylation abnormalities were monitored via N-glycomics profiling. Glycosylation biomarkers associated with clinical severity were subsequently applied retrospectively to evaluate eight additional SLC35A2-CDG patients with absent or uncertain responses to galactose therapy.Results\n\nOur index patient demonstrated significantly clinical and biochemical improvements, with the NPCRS score improving from 22 to 12. Plasma N-glycan profiling showed improvement and normalization in both under-galactosylated glycans and normally formed disialylated glycans. Fractionated N-glycan analysis confirmed consistent improvement in both affinity-purified transferrin and the triple-depleted plasma fraction with IgG, transferrin and albumin removed. Strong correlations were also identified between glycosylation markers and disease severity. In contrast, seven non-responder patients showed no obvious clinical or biochemical response, while one displayed partial biochemical improvement and steady clinical course.Conclusions\n\nThis study provides the first long-term evidence that galactose supplementation is effective with meaningful clinical and biochemical improvement observed in a SLC35A2-CDG patient. Glycosylation profiling may serve as a supportive tool for monitoring treatment response and guiding individualized therapy.",
  "abstract_shown": true,
  "affiliations": [
    "Palmieri Metabolic Disease Laboratory, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.",
    "Department of Pediatrics, Peking University People's Hospital, Beijing 100044, China.",
    "Department of Pediatrics, Division of Genetics and Genomics, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA."
  ],
  "article_type": "research article",
  "arxiv": null,
  "author_total": 5,
  "authors": [
    {
      "affs": [
        0,
        1
      ],
      "name": "Yupeng Liu"
    },
    {
      "affs": [
        0
      ],
      "name": "Earnest J P Daniel"
    },
    {
      "affs": [
        0
      ],
      "name": "Wenyue Zhang"
    },
    {
      "affs": [
        2
      ],
      "name": "Andrew Edmondson"
    },
    {
      "affs": [
        0
      ],
      "name": "Miao He"
    }
  ],
  "bibtex": "https://research.draconitic.com/paper/391wnpr4b3m1m.bib",
  "cited_by": 0,
  "doi": "10.1016/j.ymgmr.2026.101375",
  "fulltext_url": "https://europepmc.org/articles/PMC13694849",
  "id": "391wnpr4b3m1m",
  "issns": [
    "2214-4269"
  ],
  "landing_url": "https://europepmc.org/article/MED/42927181",
  "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": [
    [
      "openalex",
      "2737|Lysosomal Storage Disorders Research"
    ]
  ],
  "openalex": "W7222526791",
  "pdf_url": "https://europepmc.org/articles/PMC13694849?pdf=render",
  "pmcid": "PMC13694849",
  "pmid": "42927181",
  "published": "2026-10-16",
  "publisher": null,
  "ris": "https://research.draconitic.com/paper/391wnpr4b3m1m.ris",
  "sources": [
    {
      "first_seen": "2026-10-30T12:21:18Z",
      "native_id": "MED:42927181",
      "source": "europepmc",
      "url": "https://europepmc.org/article/MED/42927181"
    }
  ],
  "subjects": [
    {
      "field": "medicine",
      "origin": "openalex:2737|Lysosomal Storage Disorders Research",
      "subfield": "physiology"
    }
  ],
  "title": "Longitudinal analysis of clinical and biochemical outcomes during seven years of galactose supplementation in a patient with SLC35A2-CDG.",
  "title_text": "Longitudinal analysis of clinical and biochemical outcomes during seven years of galactose supplementation in a patient with SLC35A2-CDG.",
  "type": "peer-reviewed",
  "updated_at": "2026-10-30T12:21:18Z",
  "url": "https://research.draconitic.com/paper/391wnpr4b3m1m",
  "venue": "Molecular genetics and metabolism reports",
  "versions": []
}