USMLE (Fach) / Biochemistry - Genetics (Lektion)
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Homocystinemia
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- deficiency of cystathionine synthase
- associated with atherosclerosis in childhood- cardiovascular disease (DVT, stroke)- dislocation of the lens (ectopic)- mental retardation
- children often have myocardial infarction before 20 years of age
- can present similarly to Marfan syndrome
Treatment: diet low in methionine
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