Defective molybdopterin biosynthesis: clinical heterogeneity associated with molybdenum cofactor deficiency.

Journal Article (Journal Article)

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.

Full Text

Duke Authors

Cited Authors

  • Mize, C; Johnson, JL; Rajagopalan, KV

Published Date

  • 1995

Published In

Volume / Issue

  • 18 / 3

Start / End Page

  • 283 - 290

PubMed ID

  • 7474893

International Standard Serial Number (ISSN)

  • 0141-8955

Digital Object Identifier (DOI)

  • 10.1007/BF00710416


  • eng

Conference Location

  • United States