Porphobilinogen-synthase (delta-aminolevulinic acid dehydratase) deficiency in bone marrow cells of two patients with porphobilinogen-synthase defect acute porphyria.
Two male patients aged 23 and 25 years with intermittent acute, frequently repeated porphyria syndromes presented an almost total deficiency of porphobilinogen-synthase [(PBG-S); synonym: delta-aminolevulinic acid dehydratase] in peripheral erythrocytes. PBG-S was investigated in bone marrow cells obtained by sternal puncture. A minimal enzyme activity of less than 3% of controls was established. Specific activity and protoporphyrin concentration decreased considerably during the course of erythropoiesis. Both patients are homozygous gene carriers; their parents (father and mother) as well as most of their brothers and sisters are heterozygotes with a PBG-S deficiency of approximately 50% of controls. All people with PBG-S deficiency are especially endangered by alcohol intake and lead exposure, because alcohol and lead toxically inhibit PBG-S.
D000208:Acute Disease; D000328:Adult; D001853:Bone Marrow / Q000201:enzymology*; D001854:Bone Marrow Cells; D004912:Erythrocytes / Q000201:enzymology; D006720:Homozygote; D006801:Humans; D008297:Male; D011162:Porphobilinogen / Q000652:urine; D000623:Porphobilinogen Synthase / Q000172:deficiency*; D011164:Porphyrias / Q000097:blood / Q000201:enzymology* / Q000235:genetics / Q000652:urine; D011524:Protoporphyrins / Q000097:blood
D011524:Protoporphyrins; D011162:Porphobilinogen; D000623:Porphobilinogen Synthase