This review discusses the epidemiology, pathophysiology, genetic etiology, and
management of phenylketonuria (PKU). PKU, an autosomal recessive disease, is an inborn …

In 2016, the government of Saudi Arabia launched the National Transformation Program to
ensure the realisation of Kingdom's Vision 2030. One of the strategic objectives is Health …

Phenylketonuria (PKU), caused by variants in the phenylalanine hydroxylase (PAH) gene, is
the most common autosomal-recessive Mendelian phenotype of amino acid metabolism. We …

Phenylketonuria is a disease caused by congenital defects in phenylalanine metabolism
that leads to irreversible nerve cell damage. However, its detection in the early days of life …

Expanded newborn screening for inborn errors of metabolism (IEMs) by tandem mass
spectrometry (MS/MS) could simultaneously analyze more than 40 metabolites and identify …

Nonalcoholic fatty liver disease (NAFLD) is an emerging worldwide problem and its
association with other metabolic pathologies has been one of the main research topics in …

Background Biotin–thiamine‐responsive basal ganglia disease (BTBGD) is an autosomal
recessive neurometabolic disorder mostly presented in children. The disorder is described …

Severe combined immunodeficiency disease (SCID) is the most severe form of primary
immunodeficiency disorders (PID). T-cell receptor excision circle (TREC) copy number …

Government activities around NBS are increasing in India and there is increased emphasis
on pilot programs for sickle cell NBS in sub-Saharan Africa. Genetic counseling training in …

Background Propionic acidemia (PA) and methylmalonic acidemia (MMA) are rare,
autosomal recessive inborn errors of metabolism that require life-long medical treatment …