BACKGROUND Birth defects and inborn errors of metabolism are related to variable poor perinatal and neonatal outcomes. Our aim was to explore the pattern and prevalence of birth defects and metabolic birth errors in Al-Ahsa Governorate in the Eastern Province of Saudi Arabia. METHODS This retrospective case control study was done from April 2006 to 2009. Children with any birth defect or meta...

Phenylketonuria is an autosomal recessive inborn error of metabolism which can be prevented by early and continuous treatment. Therefore newborn screening for phenylketonuria has been introduced in many countries. We present here the results of the selective newborn screening for inborn errors of metabolism, including PKU, performed by tandem mass spectrometry which has been introduced in Maced...

Great progress has been made in the field of hereditary metabolic diseases since the beginning of the past century, when metabolic disorders were not really understood and could only be clinically described. Due to the development of basic sciences and advances in technology, we gained insight in the biochemical and molecular basis of hereditary metabolic diseases. It opened possibilities for t...

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Expanded newborn screening (NBS) is aimed for early detection and intervention of treatable inborn errors of metabolism and also to establish incidence of these disorders in this part of the globe. The first expanded NBS programme initiated in the capital city of Andhra Pradesh to screen all the newborns born in four major Government Maternity Hospitals in Hyderabad by heel prick capillary bloo...