[Delayed diagnosis of homocystinuria by major deficiency in cystathionine beta synthase].
BACKGROUND
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.


METHODS
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.


CONCLUSIONS
This case report, original because of the diagnosis age, suggests a hyperhomocysteinemia's screening in patients with recurrent thrombotic events.
Tur
M-D
MD
Laboratoire d'hématologie biologique, hôpitaux de Brabois-Adultes, Vandoeuvre-les-Nancy, France. pmdtur@aol.com
De Maistre
E
E
Franck
P
P
Rolland
M-O
MO
Fremont
S
S
Lecompte
T
T
Vidailhet
M
M
D003541:Cystathionine beta-Synthase / Q000172:deficiency*; D003937:Diagnosis, Differential; D006712:Homocystinuria / Q000175:diagnosis*; D006801:Humans; D008297:Male; D008875:Middle Aged; D019851:Thrombophilia / Q000209:etiology; D013997:Time Factors
D003541:Cystathionine beta-Synthase