Science Quiz / High(er) Yield Genetic Errors by Protein Or Enzyme

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

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