Neuroimaging Features of Biotinidase Deficiency

AJNR Am J Neuroradiol. 2023 Mar;44(3):328-333. doi: 10.3174/ajnr.A7781. Epub 2023 Feb 9.


Biotinidase deficiency is an autosomal recessive condition caused by pathogenic variants in the BTD gene. Resultant deficiency of free biotin leads to impaired activity of the enzyme carboxylase and related neurologic, dermatologic, and ocular symptoms. Many of these are reversible on treatment, but early recognition and commencement of biotin supplementation are critical. This practice is especially important in countries where routine neonatal screening for biotinidase deficiency is not performed. In this report comprising 14 patients from multiple centers, we demonstrate the MR imaging patterns of this disorder at various age groups. Knowledge of these patterns in the appropriate clinical context will help guide early diagnosis of this treatable metabolic disorder.

MeSH terms

  • Biotin / metabolism
  • Biotin / therapeutic use
  • Biotinidase / genetics
  • Biotinidase / metabolism
  • Biotinidase / therapeutic use
  • Biotinidase Deficiency* / diagnostic imaging
  • Biotinidase Deficiency* / drug therapy
  • Humans
  • Infant, Newborn
  • Neonatal Screening
  • Neuroimaging


  • Biotin
  • Biotinidase