Homocystinuria

Kalıtsal - AR

Cystein metabolizması bozukluğu

İlk belirtiler 20li yaşlarda

Ektopik lens

Myopi ve astigmatizm

Glokom

Retina etkilenmesi

Optik atrofi

Çukur damak

Prognatizm

Maloklüzyon

Agressif ateroskleroz

Myokard infarktı

Mitral kapak prolapsusu

Arteriovenöz tromboembolizm atakları (serebrovasküler ataklar, pulmoner embolizm)

Pankreatit

Hipopigmentasyon

Marfanoid yapı (ince-uzun vücut yapısı, uzun ekstremiteler, araknodaktili)

Toraks anomalileri

Eklemlerde gevşeklik

Kifoskolyoz

Osteoporoz

Plazma homosistein düzeyi yüksek

Epileptik ataklar

Psikiyatrik bulgular

Zeka geriliği

 

  • Lieberman ER, Gomperts ED, Shaw KN, et al. Homocystinuria: clinical and pathologic review, with emphasis on thrombotic features, including pulmonary artery thrombosis. Perspectives in Pediatric Pathology, 17:125-147, 1993

  • Carmel R, Green R, Rosenblatt DS, Watkins D. Update on cobalamin, folate, and homocysteine. Hematology. American Society of Hematology Education Program, 2003:62-81, 2003

  • Testai FD, Gorelick PB. Inherited metabolic disorders and stroke part 2: homocystinuria, organic acidurias, and urea cycle disorders. Archives of Neurology, 67: 148-153, 2010

  • Carrillo-Carrasco N, Venditti CP. Combined methylmalonic acidemia and homocystinuria, cblC type. II. Complications, pathophysiology, and outcomes. Journal of Inherited Metabolic Disease, 35(1):103-114, 2012