Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0398564 (Adenylate kinase deficiency)
 3 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Abnormalities in erythrocyte nucleotide metabolism are associated with hereditary nonspherocytic hemolytic anemia. Deficiency of adenylate kinase and pyrimidine 5'-nucleotidase and hyperactivity of adenosine deaminase shorten the red cell lifespan. Deficiency of adenylate kinase has been reported in four different families. Although in one family, total absence of this enzymatic activity was documented in one hematologically normal sibling, there is doubt about the capacity of this single enzyme deficiency to produce hemolysis. A deficiency of pyrimidine 5'-nucleotidase is a cause of hemolytic anemia characterized by red cells with basophilic stippling. This enzyme has been reported to catalyze the hydrolytic dephosphorylation of pyrimidine 5'-ribose monophosphate. Red cells of patients contain an increased concentration of pyrimidine nucleotides and reduced form of glutathione. In hyperactivity, the adenosine deaminase activity in erythrocytes may be increased to 100 times the normal level. The high adenosine deaminase activity of erythrocytes depletes adenine nucleotides, inhibiting its metabolism.
Nihon Rinsho 1996 Sep
PMID:[Hemolytic anemia due to abnormalities in erythrocyte nucleotide metabolism]. 889 May 81