Newborn Screening for Vitamin B₆ Non-responsive Classical Homocystinuria: Systematical Evaluation of a Two-Tier Strategy.

ABSTRACT:

Background

In classical homocystinuria (HCU, MIM# 236200) due to the deficiency of cystathionine β-synthase (EC 4.2.1.22) there is a clear evidence for the success of early treatment. The aim of this study was to develop and evaluate a two-tier strategy for HCU newborn screening.

Methods

We reevaluated data from our newborn screening programme for Qatar in a total number of 125,047 neonates including 30 confirmed HCU patients. Our hitherto existing screening strategy includes homocysteine (Hcy) measurements in every child, resulting in a unique dataset for evaluation of two-tier strategies. Reevaluation included methionine (Met) levels, Met to phenylalanine (Phe) ratio, and Hcy. Four HCU cases identified after database closure were also included in the evaluation. In additio

SUBMITTER: Okun JG 

PROVIDER: S-EPMC5362558 | biostudies-literature | 2017

REPOSITORIES: biostudies-literature