Inborn Errors of Metabolism

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

Front

What is the enzyme that is deficient in Phenylketonuria patients?

Back

Phenlylalanine hyroxylase

Card 3

Front

What are the tests used for diagnosis of PKU

Back

Preview of the front of card 3

Card 4

Front

Name and 3 inborn errors of metabolism that exhibit autosomal recessive mode of inheritance

Back

Preview of the front of card 4

Card 5

Front

What are the causes of Alkaptonuria? What is the mode of inheritance?

Back

Preview of the front of card 5
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