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Table 3.13

Absence of Amino Acids

DiseaseAmino Acids in UrinePresence of Abnormal Enzyme
Argininosuccinic aciduriaArgininosuccinic acid (also citrulline)Argininosuccinase
CystathioninuriaCystathionineCystathionines
HomocystinuriaHomocystineCystathionine synthetase
HypophosphatasiaPhosphoethanolamineSerum alkaline phosphate