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Case Studies | Biochemistry | Volume 11 Issue 12, December 2022 | Pages: 290 - 291 | India
Homocysteinemia in a Case Presenting with Right Ventricular Dysfunction and Deep Vein Thrombosis
Abstract: Elevated levels of homocysteine in the blood is known as homocysteinemia. Homocystinuria, an inborn error of metabolism is a rare disorder. It usually presents with ectopia lentis, stroke, mental retardation, anaemia and skeletal abnormalities. 31-year-old man presented with marfanoid features, right ventricular dysfunction, DVT in left lower limb. Other systems were normal. Investigations revealed of very high Methionine (Homocystinemia) probably due to cystathionine ? synthase deficiency.
Keywords: Homocystinuria, Thrombosis, Marfanoid features
How to Cite?: Dr. R. B. Grashia Packia Stary, Dr. P. Latha, Dr. R. Nagendran, Dr. E. Nithin Siromony, "Homocysteinemia in a Case Presenting with Right Ventricular Dysfunction and Deep Vein Thrombosis", Volume 11 Issue 12, December 2022, International Journal of Science and Research (IJSR), Pages: 290-291, https://www.ijsr.net/getabstract.php?paperid=SR221205105447, DOI: https://dx.doi.org/10.21275/SR221205105447