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

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