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

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