USMLE (Fach) / Biochemistry - Genetics (Lektion)

Vorderseite 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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