Molybdenum Cofactor Disorders

摘要: Molybdenum (Mo) cofactor deficiency (MoCD) is characterized by neonatal seizures, high-pitch crying, convulsions, and abnormal EEG MRI findings accompanied rapidly progressing neurodegeneration. In the absence of treatment, patients usually die within first years life show no neurodevelopmental improvement. The molecular cause disease mainly due to loss sulfite oxidase activity, one out four molybdenum cofactor-dependent enzymes. Sulfite catalyzes terminal step in oxidative degradation cysteine; a activity results accumulation toxic sulfite, which turn triggers alteration secondary-related metabolites such as S-sulfocysteine, thiosulfate, taurine, hypotaurine, cystine. Xanthine oxidoreductase catabolism purines from hypoxanthine xanthine further uric acid, reduced while lesser extent accumulate. (Moco) synthesized three-step biosynthetic pathway, involves gene products MOCS1, MOCS2, MOCS3, GEPH loci. Depending on mutation, type A, B, C deficiencies are known. While MoCD types A B clinically indistinguishable, has more severe neurological presentation synaptic inhibition, dependent GEPHYRIN function. Dietary restriction (low cysteine methionine) been reported some case, however, improvement was marginal. causative therapy established for based treatment with cyclic pyranopterin monophosphate, intermediate pathway. Given high neurotoxicity its related compounds, early diagnosis shown be key determinant outcome. Patients that were treated shortly after birth have not exposed extensive anticonvulsive showed best clinical