Gamma-cystathionase deficiency, also called cystathionase deficiency, is an autosomal recessive metabolic disorder caused by a defective cystathionine gamma-lyase. Cystathionine gamma-lyase catalyzes the conversion of L-Serine and homocysteine into L-Cystathionine which is the substrate of cystathionine gamma-lyase. This disorder is characterized by a large accumulation of L-Cystathionine in the cell. Symptoms of the disorder include mental deficiency and seizure. Since there is currently no cure forGamma-cystathionase deficiency, treatment involves managing the disorder's symptoms.
