Cytokines levels in late-diagnosed Classical Homocystinuria patients

摘要

Classical homocystinuria (HCU; CβS deficiency) is characterized bya blockage in homocysteine (Hcy) degradation, resulting in Hcy andmethionine accumulation and cysteine deficiency. Studies in healthyand chronically ill individuals have found positive associations betweenproinflammatory cytokines and plasma total homocysteine (tHcy)[1–3], suggesting a role for immunomodulation in HCU pathogenesis.Therefore, we aimed to investigate 20 inflammatory cytokines inplasma of poorly controlled HCU patients and healthy controls.