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

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