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

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