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

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