Gamma-cystathionase deficiency
Overview
A rare metabolic defect where a buildup of cystathionine in the body is due to an enzyme deficiency (cystathionine gamma-lyase) which normally converts methionine into cysteine. The condition is usually asymptomatic
Symptoms
* Asymptomatic * Small liver * Pale liver * Fibrotic liver * High urine level of cystathionine