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

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