Article
Molecular analysis of delta-aminolevulinate dehydratase deficiency in a patient with an unusual late-onset porphyria.
Blood - 15 Nov 2000
Akagi R, Nishitani C, Harigae H, Horie Y, Garbaczewski L, Hassoun A, Mercelis R, Verstraeten L, Sassa S
Abstract excerpt
Cloning, expression, and genotype studies of the defective gene for delta-aminolevulinate dehydratase (ALAD) in a patient with an unusual late onset of ALAD deficiency porphyria (ADP) were carried out. This patient was unique in that he developed the inherited disease, together with polycythemia, at the age of 63. ALAD activity in erythrocytes of the patient was less than 1% of the normal control level. ALAD...
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