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
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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
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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
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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
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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