Inherited biotin-responsive disorders

Barry Wolf*

*Corresponding author for this work

Research output: Chapter in Book/Report/Conference proceedingChapter


There are three inherited biotin-responsive inherited disorders, holocarboxylase synthetase deficiency, biotinidase deficiency, and biotin-thiamine-responsive basal ganglia disease. Most importantly, the symptoms of each disorder can be improved or prevented by early detection and treatment with pharmacological doses of biotin (more than 1 mg of biotin/day). Untreated, symptomatic individuals usually develop a variety of neurological symptoms, some of which are caused by secondary biotin deficiency or the accumulation of abnormal organic acids associated with multiple carboxylase deficiency. In one of these disorders, although biotin is beneficial, its actual function is still speculative. In addition, there are two single case reports of individuals with biotin-responsive disorders due to biotin-transport defects. 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 publicationVolume 1
Number of pages12
ISBN (Electronic)9780128139554
StatePublished - Jan 1 2020


  • Basal ganglia disease
  • Biotin
  • Biotin transport
  • Biotinidase deficiency
  • Holocarboxylase synthetase deficiency
  • Neurocutaneous disorder
  • Vitamin responsive

ASJC Scopus subject areas

  • Medicine(all)


Dive into the research topics of 'Inherited biotin-responsive disorders'. Together they form a unique fingerprint.

Cite this