HomocystinuriaE72.1

Author:Prof. Dr. med. Peter Altmeyer

All authors of this article

Last updated on: 29.10.2020

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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.

DiagnosisThis section has been translated automatically.

Homocysteine detection in urine.

Differential diagnosisThis section has been translated automatically.

Marfan syndrome.

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.

Authors

Last updated on: 29.10.2020

Author: Prof. Dr. med. Peter Altmeyer