Selective Screening of Children for Hereditary Metabolic Diseases by Tandem Mass Spectrometry in Kazakhstan

Conditions

• Propionic/Methylmalonic Acidemias
• Maple Syrup Urine Disease
• Citrullinemia
• Argininosuccinic Aciduria
• Ornithine Transcarbamylase Deficiency
• Carbamoyl Phosphate Synthetase I Deficiency
• N-acetylglutamate Synthase Deficiency
• Nonketotic Hyperglycinemia
• Tyrosinemia
• Homocystinuria
• Arginase Deficiency
• Isovaleric Acidemia
• Short/Branched Chain Acyl-CoA Dehydrogenase Deficiency
• Isobutyryl-CoA Dehydrogenase Deficiency
• Glutaric Acidemia Type I
• 3-methylcrotonyl-CoA Carboxylase Deficiency
• Biotinidase Deficiency
• Malonyl-CoA Decarboxylase Deficiency
• Beta-ketothiolase Deficiency
• 3-hydroxy-3-methylglutaryl-CoA Lyase Deficiency
• 3-methylglutaconyl-CoA Hydratase Deficiency
• Medium-chain Acyl-CoA Dehydrogenase Deficiency
• Very Long-chain Acyl-CoA Dehydrogenase Deficiency
• Long-chain 3-hydroxyacyl-CoA Dehydrogenase Deficiency
• Glutaric Acidemia Type II
• Primary Carnitine Deficiency
• Carnitine Palmitoyltransferase I Deficiency
• Carnitine Palmitoyltransferase II Deficiency
• Carnitine-acylcarnitine Translocase Deficiency

Interventions

• DIAGNOSTIC_TEST: Obtaining Dry Blood Spots From Healthy Newborns (Aged 1-7 Days)
• DIAGNOSTIC_TEST: Obtaining Dry Blood Spots From Healthy Children Aged 8 Days - 7 Years
• DIAGNOSTIC_TEST: Obtaining Dry Blood Spots From Healthy Children Aged 8-18 Years
• DIAGNOSTIC_TEST: Obtaining Dry Blood Spots From High-risk Newborns (Aged 1-7 Days)
• DIAGNOSTIC_TEST: Obtaining Dry Blood Spots From High-risk childrens (Aged 8 Days- 7 years)
• DIAGNOSTIC_TEST: Obtaining Dry Blood Spots From High-risk childrens (Aged 8 - 18 years)

Sponsor

West Kazakhstan Medical University