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

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