Disease Information for Molybdenum cofactor deficency

extremely rare; failure to thrive and unresponsive neonatal seizures; autosomal recessive causes stroke like syndrome in kids; metabolic disorder no homocysteine and low cystine plasma, low plasma urates, ; with high oxypurines and s-sulfocysteine and sulfites in urine; clinically overlaps sulfite dehydrogenase defect; clinically hemiplegia, hypotonia,and dystonia, bilateral basal ganglion changes on image and post; neonatal convulsions; lethal untreated;

imaging by CT and MRI characteristic ventricle dilitation/shape; phenotypic variants with late onset variant; typical lethargy, inconsolable crying, seizure sequence; motor delays; regression language skills, and feedings , irritability sustained; dystonic posturing; more seizures then plateau clinical course; striking MRI brain, also CT; sulfite oxidase activity in cultured fibroblasts abnormal; multicystic leukoencephalopathy with particular abnormal shape of frontal horns of dilated ventricles from atrophy of basal ganglia symmetrically, esp caudate and corpus callosum; intractable seizures perinatal brain damage; This is a co-factor for sulfite oxidase AND xanthine oxidase [blocked converion to uric acid] and aldehyde oxidase; diagnosis is by sulfitest which on chromatography shows s-sulfocystein and urinary isothiosulfates and hypouricemia; cultured fibroblasts assay for Molybdenum cofactor abnormal; Dipstick sulfite test positive after 10 days of age [not before] then ddx sulfite oxidase as uric acid low; MCD synonym; toxic basal ganglion disorder; No real treatment but support; may be tranfer of gene material in future----------------

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