Research Information System
Anestezi Dergisi, vol.18, no.2, pp.116-118, 2010 (Scopus)
Homocystinuria is an autosomal recessive disease associated with the deficiency of enzymes that play important role on metionin-homocystein metabolic process. A 8 year old female child presented with the complaints of diminished vision and was found to have bilateral ectopia lentis. According to clinical findings and serum amino acid levels the patient was diagnosed as homocystinuria. She was started a metionin reduced diet combined with proper medication to reduce homocysteine levels and then taken up for surgery. Precautions were taken in order to avoid the various complications and mortality associated with this syndrome. During perioperative and postoperative period no complication was detected, the patient was discharged uneventfully.