The neurology of biotinidase deficiency

Barry Wolf*

*Corresponding author for this work

Research output: Contribution to journalReview articlepeer-review

74 Scopus citations


Biotinidase deficiency is an autosomal recessively inherited metabolic disorder in which the enzyme, biotinidase, is defective and the vitamin, biotin, is not recycled. Individuals with biotinidase deficiency, if not treated with biotin, usually exhibit neurological and cutaneous abnormalities. Biotin treatment can ameliorate or prevent symptoms. Biotinidase deficiency meets the major criteria for inclusion in newborn screening programs. With the advent of universal newborn screening for the disorder, the "window-of-opportunity" to characterize the consequences of the untreated disease is essentially gone. To understand the neurology of biotinidase deficiency, we must depend on what is already known about symptomatic individuals with the disorder. Therefore, in this review, the neurological findings of symptomatic individuals with profound biotinidase deficiency have been compiled to catalog the characteristic features of the disorder and the consequences of biotin treatment on these findings. In addition, based on the available evidence, I have speculated on the cause of neurological problems associated with the disorder. Future studies in biotinidase-deficient animals should allow us to demonstrate more definitively if these speculations are correct.

Original languageEnglish (US)
Pages (from-to)27-34
Number of pages8
JournalMolecular Genetics and Metabolism
Issue number1-2
StatePublished - Sep 1 2011


  • Biotin
  • Biotin-responsive
  • Biotinidase
  • Biotinidase deficiency
  • Carboxylase deficiency
  • Metabolic disease

ASJC Scopus subject areas

  • Endocrinology, Diabetes and Metabolism
  • Biochemistry
  • Molecular Biology
  • Genetics
  • Endocrinology

Fingerprint Dive into the research topics of 'The neurology of biotinidase deficiency'. Together they form a unique fingerprint.

Cite this