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Hereditary hepatic porphyria due to homozygous δ‐aminolevulinic acid dehydratase deficiency: studies in lymphocytes and erythrocytes
Author(s) -
SASSA S.,
FUJITA H.,
DOSS M.,
HASSOUN A.,
VERSTRAETEN L.,
MERCELIS R.,
KAPPAS A.
Publication year - 1991
Publication title -
european journal of clinical investigation
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.164
H-Index - 107
eISSN - 1365-2362
pISSN - 0014-2972
DOI - 10.1111/j.1365-2362.1991.tb01817.x
Subject(s) - porphobilinogen deaminase , dehydratase , porphobilinogen synthase , porphyria , enzyme , porphobilinogen , iron deficiency , chemistry , medicine , endocrinology , biochemistry , enzyme assay , biology , acute intermittent porphyria , anemia
. Activities of δ‐aminolevulinic acid (ALA) dehydratase and porphobilinogen (PBG) deaminase, and haem content were determined in EB‐virus transformed lymphocytes from two patients with homozygous ALA dehydratase deficiency, and their family members to determine the expression of the specific gene defect in this cell type. ALA dehydratase activity, but not PBG deaminase activity or haem content, was markedly decreased in lymphocyte preparations from both patients with homozygous enzyme deficiency, and moderately decreased in subjects heterozygous for enzyme deficiency. Immunochemical quantitation of erythrocyte ALA dehydratase suggested the presence of a cross‐reactive material in a patient with a late‐onset of acute hepatic porphyria due to the homozygous enzyme deficiency.