Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0038002 (splenomegaly)
 9,873 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

The maturing reticulocyte degrades ribosomal RNA to constituent ribonucleoside phosphates. Guanosine ribonucleotides are retained only in small amounts and pyrimidine ribonucleotides only in trace quantities. In the mature erythrocyte more than 97% of total nucleotides are the interconvertible adenosine mono-, di-, and triphosphates. High energy ATP fuels most of the reactions required to sustain viability. Unable to synthesize adenosine phosphates from small precursor molecules, the red cell relies on certain salvage pathways to replenish its losses from the adenosine phosphate pool. The most important of these involve adenosine. Adenylate kinase deficiency, when severe, is associated with nonspherocytic hemolytic anemia. A genetically-determined deficiency of pyrimidine 5'-nucleotidase prevents the normal dephosphorylation of pyrimidine ribonucleotides, and hence is characterized by the unique accumulation of pyrimidine phosphates intracellularly. Other features are chronic hemolytic anemia, splenomegaly, and a profound increase in basophilic stippling on the stained blood film. The syndrome is transmitted as an autosomal recessive disorder. A similar syndrome is found in severe lead poisoning as a consequence of nucleotidase inhibition by lead. An inherited, dominantly transmitted hemolytic anemia associated with low red cell ATP and a 45-70 fold increase in the enzymatic activity of adenosine deaminase has also been documented. The undefined molecular lesion appears to involve overproduction of an entirely normal enzyme protein. Severe deficiency of either of two sequential enzymes of purine metabolism, adenosine deaminase anemia, but by excessive accumulations of deoxyribonucleotides within red cells and lymphocytes. The clinical counterpart of each is a severe immunodeficiency state secondary to lymphopenia and lymphocyte dysfunction. Certain other rare clinical syndromes involving disturbed nucleotide metabolism also are detectable by red cell assay procedures.
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PMID:Erythrocyte disorders of purine and pyrimidine metabolism. 625 19

Ingestion rate of granulocytes in osteomyelofibrosis with splenomegaly, which is still a matter of controversy, was measured in 32 patients. The mean ingestion rate in patients' granulocytes was similar to that of the controls; the results, however, were more dispersed in the patients than in the controls, with very high (three patients) and very low (three patients) ingestion rates. Ingestion alterations were serum-independent. Neutrophil glycolytic enzymes and adenylate-kinase were measured in order to assess: (1) if they could be responsible for the observed abnormalities and (2) if enzyme abnormalities, previously described in red blood cells, also occur in the neutrophils. Major increases in phosphofructoaldolase and in 3-phosphoglycerate kinase activities, contrasting with a decrease in pyruvate kinase activity were observed. These, however, did not correlate with ingestion alterations. In conclusion, we showed that the granulocyte ingestion rate is altered in a few patients only, that the alterations are unrelated to the serum, to adenylate kinase or to glycolytic enzyme abnormalities. The latter, however, are important. The mechanisms of their occurrence are unknown and hypotheses such as those proposed for red blood cells enzyme modifications in myeloproliferative disorders could be applicable.
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PMID:Ingestion rate and glycolytic enzymes in neutrophils of patients with agnogenic osteomyelofibrosis and splenomegaly. 671 65