From: Next-generation sequencing based newborn screening and comparative analysis with MS/MS
Disease Names | Number of Suspected or Positive Cases | Number of Genetically Confirmed Cases |
---|---|---|
Amino Acid Metabolism Disorders: | 9 | 0 |
Phenylketonuria | 3 | 0 |
Cystinuria | 2 | 0 |
Maple Syrup Urine Disease | - | - |
Tyrosinemia | 1 | 0 |
Citrullinemia Type I | - | - |
Citrullinemia Type II | 2 | 0 |
Arginemia | 1 | 0 |
Ornithine Transcarbamylase Deficiency | - | - |
Organic Acid Metabolism Disorders: | 6 | 0 |
Glutaric Acidemia Type I | 1 | 0 |
Methylmalonic Acidemia | 1 | 0 |
Propionic Acidemia | - | - |
Isovaleric Acidemia | 1 | 0 |
Beta-Ketothiolase Deficiency | - | - |
Glutaric Acidemia Type II | - | - |
3-Methylglutaconyl-CoA Carboxylase Deficiency | - | - |
3-Hydroxy-3-Methylglutaric Acidemia | 1 | 0 |
Multiple Carboxylase Deficiency | 1 | 0 |
Succinic Acidemia | 1 | 0 |
Organic Acid Metabolism Disorders: | 3 | 0 |
Very Long-Chain Acyl-CoA Dehydrogenase Deficiency | - | - |
Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency | - | - |
Trifunctional Protein Deficiency | 1 | 0 |
Medium-Chain Acyl-CoA Dehydrogenase Deficiency | 1 | 0 |
Short-Chain Acyl-CoA Dehydrogenase Deficiency | - | - |
Carnitine Uptake Deficiency | - | - |
Carnitine Palmitoyltransferase I Deficiency | 1 | 0 |
Carnitine Palmitoyltransferase II Deficiency | - | - |