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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.
M Doss, and
R V Tiepermann, and
J Schneider
April 1983,
Experimental hematology,
M Doss, and
R V Tiepermann, and
J Schneider
January 1982,
Stem cells,
M Doss, and
R V Tiepermann, and
J Schneider
September 1986,
Clinical genetics,
M Doss, and
R V Tiepermann, and
J Schneider
August 1982,
Blut,
M Doss, and
R V Tiepermann, and
J Schneider
February 2001,
Journal of inherited metabolic disease,
M Doss, and
R V Tiepermann, and
J Schneider
January 1976,
Methods in enzymology,
M Doss, and
R V Tiepermann, and
J Schneider
July 1985,
Der Internist,
M Doss, and
R V Tiepermann, and
J Schneider
December 1987,
Pediatrics,
M Doss, and
R V Tiepermann, and
J Schneider
November 1979,
American journal of human genetics,
M Doss, and
R V Tiepermann, and
J Schneider
March 1977,
The Journal of pediatrics,
