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

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