[Delayed diagnosis of homocystinuria by major deficiency in cystathionine beta synthase]. / Diagnostic tardif d'homocystinurie par déficit majeur en cystathionine beta synthase.
Rev Med Interne
; 25(2): 150-3, 2004 Feb.
Article
de Fr
| MEDLINE
| ID: mdl-14744647
ABSTRACT
INTRODUCTION:
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. EXEGESIS 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.CONCLUSION:
This case report, original because of the diagnosis age, suggests a hyperhomocysteinemia's screening in patients with recurrent thrombotic events.
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Collection:
01-internacional
Base de données:
MEDLINE
Sujet principal:
Cystathionine beta-synthase
/
Homocystinurie
Type d'étude:
Diagnostic_studies
/
Etiology_studies
Limites:
Humans
/
Male
/
Middle aged
Langue:
Fr
Journal:
Rev Med Interne
Année:
2004
Type de document:
Article
Pays d'affiliation:
France