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This leads to strong induction and stabilization of CYP2E1 in the liver and other tissues

thus, decreased levels can make them more susceptible to damage from oxidative stress, leading to rupture and causing hyperbilirubinemia and anemia ( GSSD can be diagnosed based on clinical presentation, an elevated urinary 5-oxoprolinuria concentration, and low GSS activity in erythrocytes or fibroblasts

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these variants seem to be inherited through recessive inheritance in the case of PFIC, while less severe diseases like ICP or LPAC are likely to be inherited as autosomal dominant variations