福德蝶呤 (Nulibry)

概览

Fosdenopterin is an exogenous form of cyclic pyranopterin monophosphate (cPMP) used as a replacement substrate in patients with molybdenum cofactor deficiency (MoCD) type A.

作用机制

Molybdenum cofactor deficiency (MoCD) is a rare autosomal-recessive disorder in which patients are deficient in three molybdenum-dependent enzymes: sulfite oxidase (SOX), xanthine dehydrogenase, and aldehyde dehydrogenase. The loss of SOX activity appears to be the main driver of MoCD morbidity and mortality, as the build-up of neurotoxic sulfites typically processed by SOX results in rapid and progressive neurological damage. In MoCD type A, the disorder results from a mutation in the MOCS1 gene leading to deficient production of MOCS1A/B, a protein that is responsible for the first step in the synthesis of molybdenum cofactor: the conversion of guanosine triphosphate into cyclic pyranopterin monophosphate (cPMP). Fosdenopterin is an exogenous form of cPMP, replacing endogenous production and allowing for the synthesis of molybdenum cofactor to proceed.

适应症

Fosdenopterin is indicated to reduce the risk of mortality in patients with molybdenum cofactor deficiency (MoCD) type A.

• Molybdenum Cofactor Deficiency, Type A