Document Detail

Elevation of pyrimidine enzyme activities in the RBC of patients with congenital hypoplastic anaemia and their parents.
MedLine Citation:
PMID:  38827     Owner:  NLM     Status:  MEDLINE    
The activities of orotate phosphoribosyl transferase (OPRT) and orotidine monophosphate decarboxylase (ODC) were significantly elevated (P less than 0.001) in erythrocytes (RBC) from five patients with prednisone-responsive congenital hypoplastic anaemia (CHA). (OPRT: patients - 10.1--64.2 nmol/h/10(9) RBC; controls - 2.8 +/- 0.3 (mean +/- SEM, n = 37); ODC: patients = 30--124 nmol/h/10(9) RBC; controls = 10.2 +/- 0.7 (mean SEM, n = 37).) Two patients had a less pronounced, but significant, increase of aspartate transcarbamylase activity and three patients had marginal increases of dihydroorotase activity. Dihydroorotate dehydrogenase activity was not detected in any CHA patient or control. In one patient prior to prednisone therapy, the OPRT and ODT activities were elevated 10-fold and remained elevated 3-fold after 16 months of therapy. An elevated enzyme pattern similar to that of RBC from CHA patients was observed in three parents of three CHA patients, but not in three parents of two other CHA patients. The activities of all five pyrimidine enzymes were normal for one patient with transient erythroblastopenia of childhood. In contrast, the activities of all the pyrimidine biosynthetic enzymes were elevated in blood from patients with a young RBC population: sickle cell anaemia, sickle-beta-thalassaemia, hereditary spherocytosis, and DiGuglielmo syndrome and from the newborn. It is postulated that factors which affect the activities of pyrimidine enzymes in CHA may also result in diminished erythropoiesis.
H R Zielke; P T Ozand; R E Luddy; W H Zinkham; A D Schwartz; D A Sevdalian
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Publication Detail:
Type:  Journal Article; Research Support, U.S. Gov't, P.H.S.    
Journal Detail:
Title:  British journal of haematology     Volume:  42     ISSN:  0007-1048     ISO Abbreviation:  Br. J. Haematol.     Publication Date:  1979 Jul 
Date Detail:
Created Date:  1979-11-21     Completed Date:  1979-11-21     Revised Date:  2006-11-15    
Medline Journal Info:
Nlm Unique ID:  0372544     Medline TA:  Br J Haematol     Country:  ENGLAND    
Other Details:
Languages:  eng     Pagination:  381-90     Citation Subset:  IM    
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MeSH Terms
Anemia, Aplastic / congenital*,  enzymology,  genetics
Aspartate Carbamoyltransferase / blood
Carboxy-Lyases / blood*
Child, Preschool
Dihydroorotase / blood
Erythrocytes / enzymology*
Middle Aged
Orotate Phosphoribosyltransferase / blood*
Orotidine-5'-Phosphate Decarboxylase / blood*
Pentosyltransferases / blood*
Prednisone / therapeutic use
Reg. No./Substance:
53-03-2/Prednisone; EC Carbamoyltransferase; EC 2.4.2.-/Pentosyltransferases; EC Phosphoribosyltransferase; EC; EC 4.1.1.-/Carboxy-Lyases; EC'-Phosphate Decarboxylase

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