[Familial hyperhomocysteinemia with early development of atherosclerosis].
We describe a large family with hyperhomocysteinemia, the first to be reported in Poland. The proband's coronary complaints appeared at the age of 20, and by the age of 50 he had suffered extensive myocardial infarction. Examination of 17 persons from 4 generations revealed hyperhomocysteinemia in 2 daughters of the proband, while more discrete abnormalities were detected during methionine loading test in two other persons. Levels of cystathionone beta-syntetase and methyleno-FH4 reductase were normal in skin fibroblast culture. Treatment with folic acid and vitamin B12 led to 5-fold depression of plasma homocysteine in the proband, and complete normalization in the other treated member of the family.
Domagała
T B
TB
II Katedry Chorób Wewnetrznych Collegium Medicum UJ w Krakowie.
Libura
M
M
Gozdecka
H
H
Krzanowski
M
M
Szczeklik
A
A
D000328:Adult; D000368:Aged; D001161:Arteriosclerosis / Q000097:blood / Q000235:genetics*; D002648:Child; D002675:Child, Preschool; D005260:Female; D005492:Folic Acid / Q000627:therapeutic use; D006710:Homocysteine / Q000097:blood*; D006801:Humans; D008297:Male; D008875:Middle Aged; D009203:Myocardial Infarction / Q000209:etiology*; D014805:Vitamin B 12 / Q000627:therapeutic use
D006710:Homocysteine; D005492:Folic Acid; D014805:Vitamin B 12
Rodzinna hiperhomocysteinemia przebiegajaca z wczesna miazdzyca tetnic.