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

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