rdf-syntax-grammar
mods:
  schema location: http://www.loc.gov/mods/v3 http://www.loc.gov/standards/mods/v3/mods-3-2.xsd
  title info:
    title: Exploring secondary biotinidase deficiency and biotin supplementation in PMM2-CDG
  name:
    name part: Himmelreich, Nastassja
    role:
      role term: creator
    role:
      role term: VerfasserIn
    role:
      role term: aut
  name:
    name part: Garbade, Sven
    name part: 1971-
    role:
      role term: VerfasserIn
    role:
      role term: aut
  name:
    name part: Okun, Jürgen G.
    name part: 1968-
    role:
      role term: VerfasserIn
    role:
      role term: aut
  name:
    name part: Hengst, Simone
    role:
      role term: VerfasserIn
    role:
      role term: aut
  name:
    name part: Geiger, Virginia
    role:
      role term: VerfasserIn
    role:
      role term: aut
  name:
    name part: Barone, Rita
    role:
      role term: VerfasserIn
    role:
      role term: aut
  name:
    name part: Wortmann, Saskia B.
    role:
      role term: VerfasserIn
    role:
      role term: aut
  name:
    name part: Thiel, Christian
    name part: 1972-
    role:
      role term: VerfasserIn
    role:
      role term: aut
  type of resource: text
  origin info:
    place:
      place term: xx
    date issued: 2025
    issuance: monographic
  language:
    language term: eng
  physical description:
    form: remote
    extent: 9
  abstract: The congenital disorders of glycosylation (CDG) encompass >190 multiorgan disorders with predominantly neurodevelopmental phenotypes with no causative treatment available. The glycoprotein biotinidase (BTD) provides biotin, an essential cofactor for carboxylases in ubiquitous metabolic pathways. Individuals with (partial) BTD deficiency (BTDD) and CDG patients show overlapping phenotypes like movement disorders, seizures, and neurodevelopmental issues. Biotin is a water-soluble, inexpensive, and safe food supplement. Patients with primary BTDD respond well to oral biotin supplement. We here explore secondary BTDD and the effect of biotin supplementation in PMM2-CDG in an initial open-label study. BTD activity in dried blood spots from 29 individuals with PMM2-CDG indicated a mean reduction to 27% (range: 23.0-40.5%) at group level. Patients (mean: 19.6 ± 11.9 years) were supplemented with 10 mg biotin daily for 12 months. The parents/caretaker reported positive responses in 62 to 69% of patients across seven (performance, social, at home, self-control, self-care, leisure, health) of the nine categories covered by the Adaptive Behavior Assessment System-II (ABAS-II) questionnaires. The reported positive effect of biotin supplementation differed between age groups, ranging from 54% (16-43 years) via 62% (2-5 years) to 80% (6-13 years). Its effect was reported to be the highest in the moderate to severely affected patient subgroups, with significant improvements in home functioning, health, performance, leisure, self-control. No adverse effects were reported. Given the absence of other treatments, the supportive effect of Biotin in PMM2-CDG deserves further exploration.
  note: Nastassja Himmelreich, Sven F. Garbade, Jürgen G. Okun, Simone Hengst, Virginia Geiger, Rita Barone, Saskia B. Wortmann, Christian Thiel
  note: Gesehen am 30.01.2026
  classification: 33
  related item:
    title info:
      title: Neuropediatrics
    name:
      name part: Exploring secondary biotinidase deficiency and biotin supplementation in PMM2-CDG
    origin info:
      publisher: Stuttgart [u.a.] : Thieme, 1980
    physical description:
      extent: Online-Ressource
    identifier: 1439-1899
    identifier: (DE-627)326646272
    identifier: (DE-600)2041654-4
    identifier: (DE-576)263593541
    part:
      text: 57(2026), 01, Seite 42-50
  related item:
    name:
      name part: Exploring secondary biotinidase deficiency and biotin supplementation in PMM2-CDG
    part:
      text: volume:57
    part:
      text: year:2026
    part:
      text: number:01
    part:
      text: pages:42-50
    part:
      text: extent:9
  identifier: https://doi.org/10.1055/a-2708-3016
  identifier: http://www.thieme-connect.de/DOI/DOI
  record info:
    record content source: DE-627
    record creation date: 260130
    record change date: 20260130133017.0
    record identifier: 1950705293
    language of cataloging:
      language term: ger