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

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