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

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