Elevation of pyrimidine enzyme activities in the RBC of patients with congenital hypoplastic anaemia and their parents
| Autor: | H. Ronald Zielke, Ruth E. Luddy, Pinar T. Ozand, David A. Sevdalian, Allen D. Schwartz, William H. Zinkham |
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| Rok vydání: | 1979 |
| Předmět: |
Adult
Male medicine.medical_specialty Erythrocytes Adolescent Carboxy-Lyases Orotate Phosphoribosyltransferase Population Orotidine-5'-Phosphate Decarboxylase Biology Hereditary spherocytosis chemistry.chemical_compound Prednisone Orotidine Internal medicine Dihydroorotate dehydrogenase activity medicine Aspartate Carbamoyltransferase Humans Pentosyltransferases education Child Dihydroorotase chemistry.chemical_classification education.field_of_study Transient erythroblastopenia of childhood Anemia Aplastic Hematology Middle Aged medicine.disease Endocrinology Enzyme chemistry Biochemistry Child Preschool Erythropoiesis Female medicine.drug |
| Zdroj: | British journal of haematology. 42(3) |
| ISSN: | 0007-1048 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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