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

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