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

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