a hereditary disorder of amino acid metabolism characterized by insufficiency of the cystathionase enzyme. The impact consist of skeletal, ocular, and vascular irregularities. Cognitive retardation happens in fewer than half of cases, frequently joined by behavioral disorders. Commonly referred to as gamma-cysthathionade insufficiency.
CYSTATHIONINURIA: “While the Cystathioninuria had never caused any severe problems for Cara or her mother, she worried about the possibility of cognitive development issues in her son who had just been diagnosed.”