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Isolated thrombosis due to the cystathionine β-synthase mutation c.833T>C (I278T)
- Source :
- Journal of Inherited Metabolic Disease. 26:509-511
- Publication Year :
- 2003
- Publisher :
- Wiley, 2003.
-
Abstract
- Hereditary homocystinuria due to cystathionine β-synthase (CBS) deficiency is a rare disease (about 1:20 000 in Germany) often complicated by thromboembolism. Single mutations, which affect the C-terminal region of the CBS enzyme, lead to isolated thrombosis without further symptoms typical for homocystinuria such as atherosclerosis, psychomotor retardation, and dislocation of the ocular lenses. In this study, DNA samples of patients with stroke (n=225) and sinus thrombosis (n=46) were screened for the most common homocystinuria mutation, CBS I278T. In each group one homozygous patient was identified. Thus, not only C-terminal mutations but also the most common mutation in classical homocystinuria, CBS I278T, can lead to isolated thrombophilic events. These data support the hypothesis that homocystinuria is an underdiagnosed disease.
- Subjects :
- Mutation
medicine.medical_specialty
biology
Psychomotor retardation
Vascular disease
business.industry
Homocystinuria
medicine.disease
medicine.disease_cause
Thrombosis
Cystathionine beta synthase
Endocrinology
Biochemistry
Internal medicine
Genetics
medicine
biology.protein
medicine.symptom
business
Stroke
Genetics (clinical)
Rare disease
Subjects
Details
- ISSN :
- 01418955
- Volume :
- 26
- Database :
- OpenAIRE
- Journal :
- Journal of Inherited Metabolic Disease
- Accession number :
- edsair.doi...........e51844d971ee76129fcf95a6fca05e4c