Disorders of Biotin Metabolism

Sara Elrefai*, Barry Wolf

*Corresponding author for this work

Research output: Chapter in Book/Report/Conference proceedingChapter

1 Scopus citations


There are several inherited disorders that affect biotin metabolism; these are holocarboxylase synthetase (HCS) deficiency, biotinidase deficiency, and biotin-responsive basal ganglia disease. Each of these disorders is inherited as an autosomal recessive trait. Untreated, symptomatic individuals usually develop a variety of neurological symptoms, some of which are caused by the accumulation of abnormal organic acids associated with multiple carboxylase deficiency. Most importantly, the symptoms of each condition can be improved or prevented by early detection and treatment with pharmacological doses of biotin. This chapter will discuss these biotin-responsive disorders.

Original languageEnglish (US)
Title of host publicationRosenberg's Molecular and Genetic Basis of Neurological and Psychiatric Disease
Subtitle of host publicationFifth Edition
PublisherElsevier Inc.
Number of pages9
ISBN (Electronic)9780124105294
ISBN (Print)9780124105492
StatePublished - Nov 13 2014


  • Biotin
  • Biotin-responsive basal ganglia disease
  • Biotinidase deficiency
  • Holocarboxylase synthetase deficiency
  • Neurocutaneous disorders
  • Vitamin-responsive

ASJC Scopus subject areas

  • Medicine(all)

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