Inborn Errors of Metabolism 0.0 / 5 ? OtherGeneticsUniversityNone Created by: foodscienceCreated on: 18-11-18 14:03 What is one gene-one enzyme hypothesis Each gene is responsible for producing a certain enzyme 1 of 11 What is the enzyme that is deficient in Phenylketonuria patients? Phenlylalanine hyroxylase 2 of 11 What are the tests used for diagnosis of PKU Blood heel test, genetic test 3 of 11 Name and 3 inborn errors of metabolism that exhibit autosomal recessive mode of inheritance PKU, AKU, MSUD 4 of 11 What are the causes of Alkaptonuria? What is the mode of inheritance? Mutation of homogentistate 1,2-dioxygenase (HGD), autosomal recessive 5 of 11 What is autosomal recessive inheritance two copies of the gene must be mutated for the person to be affected 6 of 11 How is Alkaptonuria diagnosed Black urine, gas chromatography, genetic testing 7 of 11 Can Patients with alkaptonuria consume low protein diets Yes they should to reduce Amino acids levels 8 of 11 Give an example of an inborn error of amino acids metabolism Phenlyketonuria, maple syrup urine disease 9 of 11 what disease is also called branched chain ketoaciduria Maple Syrup urine Disease 10 of 11 How is MSUD diagnosed? Sweet smelling urine, plasma amino acid analysis, bacterial inhibition method, thin later chromotrography, tandem mass spectrometry 11 of 11
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