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

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