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

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