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

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