Homocystinuria E72.1
Definition
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Congenital genetic defect in methionine metabolism as a result of a cystathione synthetase deficiency.
Clinic
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- 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.
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Diagnosis
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Homocysteine detection in urine.
Differential diagnosis
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Therapy
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Vitamin B6 (pyridoxine) in higher doses. Lifelong continuous therapy.
Progression/forecast
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Life expectancy is limited due to a tendency to thrombosis.
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Outgoing links (1)
Marfan syndrome;Disclaimer
Please ask your physician for a reliable diagnosis. This website is only meant as a reference.
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Prof. Dr. med. Peter Altmeyer