Genetics and Precision Medicine Department Programs

• Newborn Screening Program for Metabolic Disorders

The Saudi newborn screening was agreed upon in 13/04/1424 H (13/06/2003) by a Royal Decree No. 3/B/17736 as a collaborative program between Ministry of Health & Prince Salman Center for Disability Research, PSCDR. The program was launched in May 2011. The purpose of this program is to screen all newborns for serious, but treatable hereditary diseases (Inborn Errors of metabolism).

List of Several Disorders Screen by NBS (with pamphlets):

• HMG-CoA Lyase Deficiency (HMG)

• Isovaleric Acidemia (IVA)

• Methylmalonic Acidemia (MMA)

• Propionic acidemia

• Beta-ketothiolase Deficiency (BKT)

• 3-Methylcrotonyl-CoA Carboxylase Deficiency (3MCC)

• Glutaric Aciduria type-I (GA-I)
  

• Phenylketonuria (PKU)

• Maple Syrup Urine Disease (MSUD)
  

• Argininosuccinate Lyase Deficiency (ASL)

• Citullinemia (ASS)

• Medium-chain acyl-CoA dehydrogenase deficiency (MCAD)

• Very long-chain acyl-CoA dehydrogenased deficiency (VLCAD)

• Galactosemia

• Biotinidase Deficiency

• Congenital Hypothyroidism (CH)

• Congenital Adrenal Hyperplasia (CAH)

• Homocystinuria

• Tyrosinemia Type 1

• Prevention Genetic Program