Acquired and inherited porphyria: clinical and biochemical features.
Inheritance in 30 cases of porphyria cutanea tarda (PCT) and their relatives was investigated. Seventeen families were studied using the clinical criteria, quantitation, and thin layer chromatography of urinary porphyrins. Thirteen families (13 propositus and 48 relatives) were investigated by using the above criteria and in vitro porphyrin biosynthesis by erythrocytes from delta-aminolevulinic acid. Three different types of PCT were identified: overt, subclinical, and latent. Among 61 members examined, 13 had overt PCT. In six families, ten members had subclinical PCT and six latent PCT showing that in these six families PCT was a hereditary disorder. In seven other families inheritance could not be demonstrated.
D000622:Aminolevulinic Acid / Q000378:metabolism; D002855:Chromatography, Thin Layer; D004912:Erythrocytes / Q000378:metabolism; D005260:Female; D006801:Humans; D008297:Male; D010375:Pedigree; D011164:Porphyrias / Q000235:genetics*; D011166:Porphyrins / Q000096:biosynthesis / Q000652:urine; D012871:Skin Diseases / Q000235:genetics*; D014575:Uroporphyrinogen Decarboxylase / Q000378:metabolism
D011166:Porphyrins; D000622:Aminolevulinic Acid; D014575:Uroporphyrinogen Decarboxylase