Effect of BTD gene variants on in vitro biotinidase activity.
Borsatto T, Sperb-Ludwig F, Blom HJ, Schwartz IVD
Molecular genetics and metabolism, 2019 08
Abstract
Biotinidase deficiency (BD), an autosomal recessive disease, is classified into profound (activity <10%) or partial BD (activity 10-30%). The most frequent variant in patients worldwide is c.1330G > C (p.Asp444His), which is associated with partial BD. In vivo studies indicate that this variant reduces the biotinidase activity by 50%. The objective of this study was to evaluate the in vitro effect of p.Asp444His and of five novel variants identified among Brazilian individuals showing low activity of biotinidase in serum.