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A rare metabolic condition, homocystinuria can be identified by an excess of homocysteine in the urine. This inherited disorder affects the metabolization of the amino acid methionine, a component found in food. The cause is usually attributed to a deficiency of cystathionine beta synthetase—an enzyme needed to properly digest methionine.
Homocystinuria is inherited as an autosomal recessive trait, which means a child must inherit the defective gene from both parents to be affected.
Referral form
Resources:
NORD - National Organization for Rare Diseases
Rare Disease Therapeutics
Cystadane is a registered trademark of Orphan Europe and is distributed in the United States by Rare Disease Therapeutics, Inc.
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