Science Quiz / High(er) Yield Genetic Errors by Protein Or Enzyme

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Can you name the High(er) Yield Genetic Errors by Protein Or Enzyme

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Enzyme/Protein deficiencyAnswerBuild-up product, specific findings
Cystathionine snythase
Ornithine transcarbamoylase
Iduronate sulfatase
Galactose-1-phosphate uridyltransferase
Alpha-1-iduronidase
HMB synthase
Alpha-1,4-Glucosidase
Tyrosinase
Muscle glycogen phosphorylase
Beta-galactocerebrosidase
Sphingomyelinase
Uroporphyrinogen decarboxylase
C1 esterase inhibitor
Enzyme/Protein deficiencyAnswerBuild-up product, specific findings
Hexosaminidase
Dihydropterin reductase
Glucocerebrosidase
Arylsulfatase A
Glucose-6-phosphatase
Branched chain a-ketoacid dehydrogenase
Aldolase B
Homogentisase oxidase
Alpha-1,6-glucosidase (debranching enzyme)
Phenylalanine hydroxylase
HGPRT
Adenosine deaminase
Alpha-galactosidase A

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