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Inborn Errors of Biotin Metabolism
William L. Nyhan, MD, PhD
Arch Dermatol. 1987;123(12):1696-1698a.
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.
(Arch Dermatol 1987;123:1696-1698a)
Author Affiliations
From the Department of Pediatrics, University of California— San Diego, La Jolla.
Footnotes
Accepted for publication June 30, 1987.
Read before the 36th Annual Symposium on the Biology of Skin ("Molecular Basis of Nutritional Dermatoses"), Salishan Lodge, Gleneden Beach, Ore, Oct 21, 1986.
Reprint requests to Department of Pediatrics, University of California-San Diego, La Jolla, CA 92093-0609 (Dr Nyhan).
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