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

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