Cerebral venous sinus thrombosis due to hyperhomocysteinemia with cystathionine-β-synthase (CBS) gene mutation
نویسندگان
چکیده
منابع مشابه
Severe hyperhomocysteinemia due to cystathionine β-synthase deficiency, and Factor V Leiden mutation in a patient with recurrent venous thrombosis
Homocysteine is an amino acid that is toxic to vascular endothelial cells, and plasma elevations have been associated with venous thromboembolism. Severe hyperhomocysteinemia (>100 μmol/L) may result from mutations in the genes coding for enzymes in the trans-sulfuration or the folate/vitamin B12-dependent re-methylation pathways. Here, we report the case of a young woman with severe, recurrent...
متن کاملCystathionine β-Synthase p.S466L Mutation Causes Hyperhomocysteinemia in Mice
Missense mutations in the cystathionine beta-synthase (CBS) gene are the most common cause of clinical homocystinuria in humans. The p.S466L mutation was identified in a homocystinuric patient, but enzymatic studies with recombinant protein show this mutant to be highly active. To understand how this mutation causes disease in vivo, we have created mice lacking endogenous mouse CBS and expressi...
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متن کاملCerebral venous sinus thrombosis.
c erebral venous sinus thrombosis is an uncommon condition, which over the past 10 years has been diagnosed more frequently due to greater awareness and the availability of better non-invasive diagnostic techniques. Because of the generally good prognosis and variable clinical signs, many cases remain clinically undetected but some patients suffer complications and die. CVST is slightly more co...
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ژورنال
عنوان ژورنال: Medicine
سال: 2019
ISSN: 0025-7974,1536-5964
DOI: 10.1097/md.0000000000014349