PT  - JOURNAL ARTICLE
AU  - Biswas, A.
AU  - McNamara, C.
AU  - Gowda, V.K.
AU  - Gala, F.
AU  - Sudhakar, S.
AU  - Sidpra, J.
AU  - Vari, M.S.
AU  - Striano, P.
AU  - Blaser, S.
AU  - Severino, M.
AU  - Batzios, S.
AU  - Mankad, K.
TI  - Neuroimaging Features of Biotinidase Deficiency
AID  - 10.3174/ajnr.A7781
DP  - 2023 Feb 09
TA  - American Journal of Neuroradiology
4099  - http://www.ajnr.org/content/early/2023/02/09/ajnr.A7781.short
4100  - http://www.ajnr.org/content/early/2023/02/09/ajnr.A7781.full
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.