Table 1 Disorders integrated into the extended neonatal screening program in Qatar
From: THE FUTURE OF MEDICINE, healthcare innovation through precision medicine: policy case study of Qatar
Group Classification | Disorders |
|---|---|
Endocrinopathies | Congenital hyperthyroidism Congenital adrenal hyperplasia Phenyl ketonuria (PKU) Benign hyperphenylalaninemia (HPA) Defects of biopterin cofactor biosynthesis (BS) Maple syrup disease (MSUD) |
Aminoacidopathies and urea cycle disorders | Homocystinuria (HCY) Tyrosinanemia type 1 Citrulliniemia Argininosuccinic aciduria |
Organic acidurias | Methylmalonic aciduria CBl-disorders Propionic aciduria Glutaric aciduria type I Isovaleric aciduria,3-methylcrotonulglycinuria Multiple acyl CoA dehydrogenase (MAD) deficiency Isobutryl-CoA dehydrogenase (IBDH) deficiency |
Fatty acid oxidation disorders,carnitine cycle defects anddisorders of ketogenesis | Medium chain dehydrogenase (MCAD) deficiency Very long chain acyl CoA dehydrogenase (VLCAD) deficiency LCHAD deficiency Short chain acyl CoA dehydrogenase (SCAD) deficiency Carnithine transporter deficiency Carnithine palmitoyltransferase I (CPT I) deficiency Carnithine palmitoyltransferase (CPT II) deficiency 3-hydroxy-3-methyl-glutaryl-coenzyme A (HMG-CoA) lyase deficiency |
Others | Ketothiolase deficiencies Classical galactosidase Biotinidase deficiency |