RT Journal Article
SR Electronic
T1 Neuroimaging Features of Biotinidase Deficiency
JF American Journal of Neuroradiology
JO Am. J. Neuroradiol.
FD American Society of Neuroradiology
SP 328
OP 333
DO 10.3174/ajnr.A7781
VO 44
IS 3
A1 A. Biswas
A1 C. McNamara
A1 V.K. Gowda
A1 F. Gala
A1 S. Sudhakar
A1 J. Sidpra
A1 M.S. Vari
A1 P. Striano
A1 S. Blaser
A1 M. Severino
A1 S. Batzios
A1 K. Mankad
YR 2023
UL http://www.ajnr.org/content/44/3/328.abstract
AB SUMMARY: 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.