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

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