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homocystinuria
homocystinuria Homocystinuria is an inherited metabolic disorder, usually caused by lack of the enzyme cystathionine beta-synthase, in which homocysteine builds up in the blood and urine.
Homocystinuria is an inherited metabolic disorder, usually caused by lack of the enzyme cystathionine beta-synthase, in which homocysteine builds up in the blood and urine. It is associated with physical abnormalities and weakness, lens dislocation, increased risk of intellectual disability, and damage to blood vessels that can lead to stroke or heart attack.