PT  - JOURNAL ARTICLE
AU  - A. Biswas
AU  - C. McNamara
AU  - V.K. Gowda
AU  - F. Gala
AU  - S. Sudhakar
AU  - J. Sidpra
AU  - M.S. Vari
AU  - P. Striano
AU  - S. Blaser
AU  - M. Severino
AU  - S. Batzios
AU  - K. Mankad
TI  - Neuroimaging Features of Biotinidase Deficiency
AID  - 10.3174/ajnr.A7781
DP  - 2023 Mar 01
TA  - American Journal of Neuroradiology
PG  - 328--333
VI  - 44
IP  - 3
4099  - http://www.ajnr.org/content/44/3/328.short
4100  - http://www.ajnr.org/content/44/3/328.full
SO  - Am. J. Neuroradiol.2023 Mar 01; 44
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.