Tur M-D, De Maistre E, Franck P, Rolland M-O, Fremont S, Lecompte T, Vidailhet M
Laboratoire d'hématologie biologique, hôpitaux de Brabois-Adultes, Vandoeuvre-les-Nancy, France.
Rev Med Interne. 2004 Feb;25(2):150-3. doi: 10.1016/j.revmed.2003.10.012.
Homocystinuria due to cystathionine beta synthase (CBS) deficiency is a special type of hyperhomocysteinemia because of its clinical expression (thrombotic events, ectopic lens and mental retardation). It's a rare, hereditary recessive autosomic disease generally diagnosed during childhood.
Thrombophilia examination in a 50-year-old man found a dramatically increase homocysteinemia. Homocystinuria, profile of plasmatic amino acids and reduced CBS activity, (0.05 microkat/kg protein; N = 1.5 +/- 0.8) confirmed homocystinuria's diagnosis. Family study demonstrates that three siblings suffer from homocystinuria. Vitamin enriched diet with pyridoxin, vitamin B12 and folates induced reducing hyperhomocysteinemia and homocystinuria.
This case report, original because of the diagnosis age, suggests a hyperhomocysteinemia's screening in patients with recurrent thrombotic events.
