A case of partial deficiency of alpha 1-antichymotrypsin.
A 20-year-old woman, admitted to a neurological ward with a diagnosis of benign intracranial hypertension, was found on specific protein electroimmunoassay to have a consistently decreased concentration of alpha 1-antichymotrypsin in her plasma. Serum from her father showed the same result. Further investigation of her family demonstrated that this partial deficiency was transmitted in an autosomal dominant fashion and was not associated with any obvious specific clinical abnormalities.
D000328:Adult; D000368:Aged; D002918:Chymotrypsin / Q000037:antagonists & inhibitors* / Q000172:deficiency / Q000235:genetics; D005260:Female; D006801:Humans; D007122:Immunoelectrophoresis; D007525:Isoelectric Focusing; D008875:Middle Aged; D010375:Pedigree; D011559:Pseudotumor Cerebri / Q000175:diagnosis; D012016:Reference Values; D000514:alpha 1-Antichymotrypsin
D000514:alpha 1-Antichymotrypsin; D002918:Chymotrypsin