Biotinidase deficiency and our champagne legacy

Gene. 2016 Sep 10;589(2):142-50. doi: 10.1016/j.gene.2015.10.010. Epub 2015 Oct 9.

Abstract

Biotinidase is the enzyme that is necessary for the recycling of the vitamin, biotin. Biotinidase deficiency is an autosomal recessively inherited metabolic disorder. If untreated, individuals with biotinidase deficiency usually develop neurological and cutaneous symptoms that can result in coma or death. Symptomatic individuals can be markedly improved by treating them with pharmacological doses of biotin; however, some clinical features may be irreversible. Fortunately, essentially all symptoms can be prevented if treatment is initiated at birth or before the symptoms develop. Because of this, the disorder is currently screened for in newborns in all states in the United States and in many countries around the world. This is the story of one laboratory's work in bringing basic science research from the discovery of the disorder to its translation into clinical medicine and its impact on the individuals with the disorder and their families.

Keywords: Biotin; Biotin-responsive; Biotinidase; Biotinidase deficiency; Metabolic disease; Mutation; Newborn screening.

Publication types

  • Historical Article
  • Review

MeSH terms

  • Animals
  • Biotin / metabolism
  • Biotin / therapeutic use*
  • Biotinidase / genetics*
  • Biotinidase / history
  • Biotinidase Deficiency / diagnosis
  • Biotinidase Deficiency / drug therapy*
  • Biotinidase Deficiency / genetics
  • Biotinidase Deficiency / history*
  • Disease Models, Animal
  • Gene Expression
  • History, 20th Century
  • History, 21st Century
  • Humans
  • Infant, Newborn
  • Mice
  • Mutation*
  • Neonatal Screening
  • Translational Research, Biomedical / history*
  • United States

Substances

  • Biotin
  • Biotinidase