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

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