High prevalence of cerebral venous sinus thrombosis in seven Chinese patients with cystathionine β-synthase deficiency

[...]family screening was carried out with Sanger sequencing in all their patients and affected siblings. All patients were treated with three B vitamins (including mecobalamine: 0.5–1.5 mg/day, Folic acid tablets: 5–15 mg/day, Vitamin B6: 30–60 mg/day) once severe hyperhomocysteinemia (HHCY) is dia...

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Bibliographic Details
Published in:Chinese medical journal 2020-09, Vol.133 (18), p.2247-2249
Main Authors: Wen, Yan-Bin, Chen, Jun, Xiao, Li-Jun, Feng, Jie, Gu, Wen-Ping
Format: Article
Language:English
Subjects:
Acids
China - epidemiology
Clinical Observations
Cystathionine beta-Synthase - genetics
Diet
Homocystinuria
Humans
Intellectual disabilities
Medical imaging
Mutation
Patients
Plasma
Prevalence
Siblings
Sinus Thrombosis, Intracranial - diagnostic imaging
Sinus Thrombosis, Intracranial - epidemiology
Sinuses
Thrombosis
Vitamin B
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Summary:[...]family screening was carried out with Sanger sequencing in all their patients and affected siblings. All patients were treated with three B vitamins (including mecobalamine: 0.5–1.5 mg/day, Folic acid tablets: 5–15 mg/day, Vitamin B6: 30–60 mg/day) once severe hyperhomocysteinemia (HHCY) is diagnosed. All seven patients had significantly increased plasma total Hcy (48–242 μmol/L) and decreased plasma levels of Vitamin B12 (below 50 pg/mL) and folic acid (below 1 ng/mL).
ISSN:0366-6999
2542-5641
DOI:10.1097/CM9.0000000000001013