How does the Second-tier testing involve? Involves further analysis of the same spot that produce an abnormal result targeting different, more specific analytes and, using a methodology different from the one used in the primary screening tests. How does the Second-tier testing requirement? Intended to reduce the number of infants requiring additional confirmatory testing. What are Newborn Screening tests? Such testing includes DNA analysis for cystic fibrosis, MS/MS steroid profiling for congenital adrenal hyperplasia, and TSH for congenital hypothyroidism. What are the three types in Inborn Errors of Disorders of Amino Acid Metabolism Metabolism disorders? Disorders of Fatty Acid Oxidation Disorders of Carbohydrate Metabolism What are Disorders of Amino Acid Metabolism Aminoacidopathies known as Aminoacidopathies? Phenylketonuria Tyrosinemia Homocystinuria Maple Syrup Urine Disease What are Disorders of Amino Acid Metabolism Organic Acidemias being as Organic Acidemias? Glutaric Acidemia Type I Isovaleric acidemia Methylmalonic acidemia Propionic acidemia How are Disorders of Fatty Acid Oxidation Medium-Chain Acyl-CoA classified? Dehydrogenase Deficiency (MCAD) Long-Chain 3-hydroxyacyl-CoA Dehydrogenase Deficiency (LCHAD) How are Disorders of Carbohydrate Metabolism Glycogen Storage Disease Inborn Errors classified? Glucose-6-Phosphate Dehydrogenase Deficiency Classic Galactosemia What is Aminoacidopathies? Parent amino acid accumulates in excess in blood and spills over into urine What is example of Aminoacidopathies? Phenylketonuria syrup urine disease Homocystinuria Tyrosinemia What do you called the disorder of amino acid Organic acidemias of metabolism that’s accumulation of products in the catabolic pathway of certain amino acids? What are examples of organic acidemias ? Glutaric acidemia type I Isovaleric acidemia Methylmalonic acidemia Propionic acidemia
How does the Second-tier testing involve? Involves further analysis of the same spot that produce an abnormal result targeting different, more specific analytes and, using a methodology different from the one used in the primary screening tests. How does the Second-tier testing requirement? Intended to reduce the number of infants requiring additional confirmatory testing. What are Newborn Screening tests? Such testing includes DNA analysis for cystic fibrosis, MS/MS steroid profiling for congenital adrenal hyperplasia, and TSH for congenital hypothyroidism. What are the three types in Inborn Errors of Metabolism disorders? Disorders of Amino Acid Metabolism Disorders of Fatty Acid Oxidation Disorders of Carbohydrate Metabolism What are Disorders of Amino Acid Metabolism known as Aminoacidopathies? Aminoacidopathies Phenylketonuria Tyrosinemia Homocystinuria Maple Syrup Urine Disease What are Disorders of Amino Acid Metabolism being as Organic Acidemias? Organic Acidemias Glutaric Acidemia Type I Isovaleric acidemia Methylmalonic acidemia Propionic acidemia How are Disorders of Fatty Acid Oxidation classified? Medium-Chain Acyl-CoA Dehydrogenase Deficiency (MCAD) Long-Chain 3-hydroxyacyl-CoA Dehydrogenase Deficiency (LCHAD) How are Disorders of Carbohydrate Metabolism Inborn Errors classified? Glycogen Storage Disease Glucose-6-Phosphate Dehydrogenase Deficiency Classic Galactosemia What is Aminoacidopathies? Parent amino acid accumulates in excess in blood and spills over into urine What is example of Aminoacidopathies? Phenylketonuria syrup urine disease Homocystinuria Tyrosinemia What do you called the disorder of amino acid of metabolism that’s accumulation of products in the catabolic pathway of certain amino acids? Organic acidemias What are examples of organic acidemias ? Glutaric acidemia type I Isovaleric acidemia Methylmalonic acidemia Propionic acidemia
ChemPPT%20Flashcards%20Unit%205.docx