Hereditary hepatic porphyria due to homozygous delta-aminolevulinic acid dehydratase deficiency: studies in lymphocytes and erythrocytes. Academic Article uri icon

Overview

abstract

  • Activities of delta-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.

publication date

  • April 1, 1991

Research

keywords

  • Erythrocytes
  • Liver Diseases
  • Lymphocytes
  • Porphobilinogen Synthase
  • Porphyrias

Identity

Scopus Document Identifier

  • 0025735156

Digital Object Identifier (DOI)

  • 10.1111/j.1365-2362.1991.tb01817.x

PubMed ID

  • 1905639

Additional Document Info

volume

  • 21

issue

  • 2