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Case Studies | Biochemistry | India | Volume 11 Issue 12, December 2022 | Popularity: 4.4 / 10
Homocysteinemia in a Case Presenting with Right Ventricular Dysfunction and Deep Vein Thrombosis
Dr. R. B. Grashia Packia Stary, Dr. P. Latha, Dr. R. Nagendran, Dr. E. Nithin Siromony
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
Edition: Volume 11 Issue 12, December 2022
Pages: 290 - 291
DOI: https://www.doi.org/10.21275/SR221205105447
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