Targeted SLC19A3 gene sequencing of 3000 Saudi newborn: a pilot study toward newborn screening.

ABSTRACT:

Background

Biotin-thiamine-responsive basal ganglia disease (BTBGD) is an autosomal recessive neurometabolic disorder mostly presented in children. The disorder is described as having subacute encephalopathy with confusion, dystonia, and dysarthria triggered by febrile illness that leads to neuroregression and death if untreated. Using biotin and thiamine at an early stage of the disease can lead to significant improvement.

Methods

BTBGD is a treatable disease if diagnosed at an early age and has been frequently reported in Saudi population. Keeping this in mind, the current study screened 3000 Saudi newborns for the SLC19A3 gene mutations using target sequencing, aiming to determine the carrier frequency in Saudi Population and whether BTBGD is a good candidate to be includ

SUBMITTER: Alfadhel M 

PROVIDER: S-EPMC6801173 | biostudies-literature | 2019 Oct

REPOSITORIES: biostudies-literature