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

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