title: Defective molybdopterin biosynthesis: clinical heterogeneity associated with molybdenum cofactor deficiency.
abstract: A patient with molybdenum cofactor deficiency (producing the biochemical abnormalities associated with deficiencies of sulphite oxidase and xanthine dehydrogenase) clinically expressed Marfan-like habitus with dislocated lenses, vertebral abnormality, learning disability, moderate hemiplegia, increased medial lentiform MRI signal and intermittent microscopic haematuria. S-Sulphocysteine was present in plasma and urine, and the oxidized derivative of a molybdopterin precursor (precursor Z), together with xanthine and hypoxanthine, were elevated in urine. Blood uric acid was < 1 mg/dl, while urinary urothione was not detected. These data indicate a functionally inadequate terminal enzyme for converting precursor Z to active molybdopterin (complementation group B of general molybdenum cofactor deficiency). Although the biochemical parameters were indicative of a severe deficiency state, the patient has survived into the third decade with a less severe clinical spectrum than has generally been associated with this disease.
mesh_terms: D000328:Adult; D003067:Coenzymes; D006801:Humans; D008297:Male; D008667:Metalloproteins / Q000378:metabolism*; D008982:Molybdenum / Q000378:metabolism*; D000090006:Molybdenum Cofactors; D011621:Pteridines / Q000378:metabolism*; D011686:Purine-Pyrimidine Metabolism, Inborn Errors / Q000000981:diagnostic imaging / Q000378:metabolism*; D011687:Purines / Q000378:metabolism; D011859:Radiography; D013131:Spine / Q000002:abnormalities / Q000000981:diagnostic imaging; D013455:Sulfur / Q000378:metabolism
chemical_list: D003067:Coenzymes; D008667:Metalloproteins; D008982:Molybdenum; D000090006:Molybdenum Cofactors; D011621:Pteridines; D011687:Purines; D013455:Sulfur; C022261:molybdopterin