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

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