Homocystinuria is a rare metabolic condition characterized by an excess of the compound homocystine in the urine.
Related categories 3
MedlinePlus Medical Encyclopedia: Homocystinuria
Learn about this condition, the causes, symptoms, treatment, prognosis, and complications.
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.
Factsheet on this metabolic disorder, its description, pathophysiology, epidemiology, clinical findings, presentation, investigations, complications, management, prognosis and differential diagnosis.
Last update:September 25, 2015 at 18:13:40 UTC