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Inborn errors of biotin metabolism.

Abstract

The important role of biotin in human physiology has been highlighted by the recognition of two newly discovered human inborn errors of the metabolism of biotin. The molecular defect in the neonatal-onset disease is in the enzyme holocarboxylase synthetase. The defect in the later infantile-onset disease is in the enzyme biotinidase. Both disorders present with impressive clinical manifestations involving the skin and hair. In the neonatal disease, alopecia totalis is associated with a bright red scaly total body eruption. In biotinidase deficiency, the alopecia is more patchy and the skin lesions resemble acrodermatitis enteropathica. Both disorders are complicated by recurrent episodes of life-threatening acidosis and massive ketosis.

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  • Publisher Full Text
  • Authors+Show Affiliations

    Department of Pediatrics, University of California-San Diego, La Jolla 92093-0609.

    Source

    Archives of dermatology 123:12 1987 Dec pg 1696-1698a

    MeSH

    Amidohydrolases
    Biotin
    Biotinidase
    Carbon-Nitrogen Ligases
    Humans
    Infant
    Infant, Newborn
    Ligases
    Metabolism, Inborn Errors
    Multiple Carboxylase Deficiency
    Nervous System Diseases
    Skin Diseases

    Pub Type(s)

    Journal Article
    Review

    Language

    eng

    PubMed ID

    3318710

    Citation

    Nyhan, W L.. "Inborn Errors of Biotin Metabolism." Archives of Dermatology, vol. 123, no. 12, 1987, 1696-1698a.
    Nyhan WL. Inborn errors of biotin metabolism. Arch Dermatol. 1987;123(12):1696-1698a.
    Nyhan, W. L. (1987). Inborn errors of biotin metabolism. Archives of Dermatology, 123(12), 1696-1698a.
    Nyhan WL. Inborn Errors of Biotin Metabolism. Arch Dermatol. 1987;123(12):1696-1698a. PubMed PMID: 3318710.
    * Article titles in AMA citation format should be in sentence-case
    TY - JOUR T1 - Inborn errors of biotin metabolism. A1 - Nyhan,W L, PY - 1987/12/1/pubmed PY - 1987/12/1/medline PY - 1987/12/1/entrez SP - 1696 EP - 1698a JF - Archives of dermatology JO - Arch Dermatol VL - 123 IS - 12 N2 - The important role of biotin in human physiology has been highlighted by the recognition of two newly discovered human inborn errors of the metabolism of biotin. The molecular defect in the neonatal-onset disease is in the enzyme holocarboxylase synthetase. The defect in the later infantile-onset disease is in the enzyme biotinidase. Both disorders present with impressive clinical manifestations involving the skin and hair. In the neonatal disease, alopecia totalis is associated with a bright red scaly total body eruption. In biotinidase deficiency, the alopecia is more patchy and the skin lesions resemble acrodermatitis enteropathica. Both disorders are complicated by recurrent episodes of life-threatening acidosis and massive ketosis. SN - 0003-987X UR - https://www.unboundmedicine.com/medline/citation/3318710/Inborn_errors_of_biotin_metabolism_ L2 - https://jamanetwork.com/journals/jamadermatology/fullarticle/vol/123/pg/1696 DB - PRIME DP - Unbound Medicine ER -