Homocystinuria is a rare metabolic condition characterized by an excess of the compound homocystine in the urine.
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- NORD: Homocystinuria Offers alternative names, a general discussion and further resources.
- OMIM: Homocystinuria Due to Cystathionine Beta-Synthase Deficiency Technical article from Online Mendelian Inheritance in Man.
- Patient: Homocystinuria Factsheet on this metabolic disorder, its description, pathophysiology, epidemiology, clinical findings, presentation, investigations, complications, management, prognosis and differential diagnosis.
- MedlinePlus Medical Encyclopedia: Homocystinuria Learn about this condition, the causes, symptoms, treatment, prognosis, and complications.