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

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