DefinitionThis section has been translated automatically.
Congenital genetic defect in methionine metabolism as a result of a cystathione synthetase deficiency.
Clinical featuresThis section has been translated automatically.
- Skin symptoms: Spotty, reddened cheek skin and large-pored facial skin, especially when warm. Fine, thin hair. The skin of the extremities appears reticulated. Atrophic, cigarette-paper-like scars and livedo-like vessel drawings on the hands are possible.
- Extracutaneous manifestations: lensectopia, skeletal changes, disturbances of growth and mental development, myopia, arterial and venous thrombosis.
You might also be interested in
DiagnosisThis section has been translated automatically.
Homocysteine detection in urine.
Differential diagnosisThis section has been translated automatically.
TherapyThis section has been translated automatically.
Vitamin B6 (pyridoxine) in higher doses. Lifelong continuous therapy.
Progression/forecastThis section has been translated automatically.
Life expectancy is limited due to a tendency to thrombosis.
Recommended articles
Outgoing links (1)
Marfan syndrome;Disclaimer
Please ask your physician for a reliable diagnosis. This website is only meant as a reference.
Prof. Dr. med. Peter Altmeyer