Biotinidase deficiency: Genotype-biochemical phenotype association in Brazilian patients.

ABSTRACT:

Introduction

The association between the BTD genotype and biochemical phenotype [profound biotinidase deficiency (BD), partial BD or heterozygous activity] is not always consistent. This study aimed to investigate the genotype-biochemical phenotype association in patients with low biotinidase activity.

Methods

All exons, the 5'UTR and the promoter of the BTD gene were sequenced in 72 Brazilian individuals who exhibited low biotinidase activity. For each patient, the expected biochemical phenotype based on the known genotype was compared with the observed biochemical phenotype. Additional non-genetic factors that could affect the biotinidase activity were also analysed.

Results

Most individuals were identified by neonatal screening (n = 66/72). When consecutive results

SUBMITTER: Borsatto T 

PROVIDER: S-EPMC5428951 | biostudies-literature | 2017

REPOSITORIES: biostudies-literature