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erythrocyte AMP deaminase deficiency

Disease Summary
Associated Targets (1)
Tchem

1


Uniprot Description A metabolic disorder due to lack of activity of the erythrocyte isoform of AMP deaminase. It is a clinically asymptomatic condition characterized by a 50% increase in steady-state levels of ATP in affected cells. Individuals with complete deficiency of erythrocyte AMP deaminase are healthy and have no hematologic disorders.
Mondo Term and Equivalent IDs
MONDO:0020734:  erythrocyte AMP deaminase deficiency
UMLS:C2752073: