Defective molybdopterin biosynthesis: clinical heterogeneity associated with molybdenum cofactor deficiency

J Inherit Metab Dis. 1995;18(3):283-90. doi: 10.1007/BF00710416.


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.

Publication types

  • Case Reports
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Adult
  • Coenzymes*
  • Humans
  • Male
  • Metalloproteins / metabolism*
  • Molybdenum / metabolism*
  • Molybdenum Cofactors
  • Pteridines / metabolism*
  • Purine-Pyrimidine Metabolism, Inborn Errors / diagnostic imaging
  • Purine-Pyrimidine Metabolism, Inborn Errors / metabolism*
  • Purines / metabolism
  • Radiography
  • Spine / abnormalities
  • Spine / diagnostic imaging
  • Sulfur / metabolism


  • Coenzymes
  • Metalloproteins
  • Molybdenum Cofactors
  • Pteridines
  • Purines
  • Sulfur
  • Molybdenum
  • molybdenum cofactor