Frequency of low erythrocyte porphobilinogen deaminase activity in Finland
| Autor: | P. Mustajoki, R. Kauppinen, L. Lannfelt, J. Koistinen, L. Lilius |
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| Rok vydání: | 1992 |
| Předmět: |
Adult
Male medicine.medical_specialty Erythrocytes Lymphocyte Porphobilinogen deaminase Blood Donors medicine.disease_cause 03 medical and health sciences chemistry.chemical_compound Porphyrias 0302 clinical medicine Internal medicine Porphobilinogen Internal Medicine medicine Prevalence Humans Finland 030304 developmental biology Acute intermittent porphyria chemistry.chemical_classification 0303 health sciences Mutation business.industry Porphobilinogen deaminase activity Aminolevulinic Acid medicine.disease Pedigree Hydroxymethylbilane Synthase Enzyme medicine.anatomical_structure Endocrinology Porphyria chemistry Porphyria Acute Intermittent Female business 030217 neurology & neurosurgery |
| Zdroj: | Journal of internal medicine. 231(4) |
| ISSN: | 0954-6820 |
| Popis: | The frequency of low erythrocyte porphobilinogen deaminase (PBGD) activity was investigated in 2234 blood donors and in 30 patients with acute intermittent porphyria. The mean enzyme activities (+/- SD) were 3.38 +/- 0.58 U and 1.82 +/- 0.41 U, respectively. Eighteen blood donors without any history of symptoms of porphyria or haematological disease had low PBGD activity (less than 2.20 U), and they were studied further. All of them also had subnormal concentrations of the erythrocyte enzyme protein, as determined by an immunological method. Lymphocyte PBGD activity was within the normal range, but this parameter does exhibit a wide overlap between normal and porphyric values. Urinary excretion of porphobilinogen was moderately increased in two of the blood donors. In four of the 18 families of the blood donors with low PBGD activity several first-degree relatives had low erythrocyte enzyme activity, consistent with a dominant mode of inheritance. The 5-aminolaevulinic acid loading-test was normal in the blood donors with familial occurrence of low erythrocyte PBGD. It is concluded that inherited defects in erythrocyte PBGD occurred among Finnish blood donors with a frequency of about 1 in 500. The defects may be identical with those in acute intermittent porphyria (AIP), but other mechanisms are also possible, e.g. a mutation in the erythroid-specific part of the PBGD gene. |
| Databáze: | OpenAIRE |
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