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

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