Biotin-related abnormalities in human metabolism

✍ Scribed by William L. Nyhan

• Book ID: 102758240
• Publisher: John Wiley and Sons
• Year: 1984
• Tongue: English
• Weight: 508 KB
• Volume: 1
• Category: Article
• ISSN: 0265-9247
• DOI: 10.1002/bies.950010208

✦ Synopsis

Abstract

Recent work has led to the discovery that two severe hereditary human pathologies are caused by biotin deficiency. Significantly, administration of pharmacologic doses of biotin can provide clinically effective treatment. Both diseases are autosomal recessive in inheritance but differ in their associated enzymatic deficiencies. The clinical, enzymatic, and genetic characteristics of these pathologies are reviewed here.