[Late revelation of homocysteinuria: clinical, biological and progressive aspects].

UNLABELLED: Homocysteinuria is a metabolic disorder with defect in genes encoding for methionine metabolism enzymes. The clinical features consist in: ophthalmic, neurological, orthopedic and vascular manifestations. It is generally diagnosed in childhood. Vascular involvements characterize adult's forms. We report one case.

OBSERVATION: A 26-year-old man, who has lentis ectopia and a recent epilepsy, was hospitalized for deep vein thrombosis. Regarding the marfanoid phenotype and the high level homocysteinemia (231 micromol/L), homocysteinuria was suspected. Amino acid chromatography and reduced CBS activity were used to confirm the diagnosis. Vitamin enriched diet with vitamin B6 and folates has reduced slightly the homocysteine level.

CONCLUSION

Homocysteinuria must be diagnosed early since a simple vitamin supply could ameliorate prognosis and decrease complications.