Journal of Inherited Metabolic Disease

, Volume 18, Issue 3, pp 283–290

Defective molybdopterin biosynthesis: clinical heterogeneity associated with molybdenum cofactor deficiency

  • C. Mize
  • J. L. Johnson
  • K. V. Rajagopalan
Article

DOI: 10.1007/BF00710416

Cite this article as:
Mize, C., Johnson, J.L. & Rajagopalan, K.V. J Inherit Metab Dis (1995) 18: 283. doi:10.1007/BF00710416

Summary

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.

Copyright information

© Society for the Study of Inborn Errors of Metabolism and Kluwer Academic Publishers 1995

Authors and Affiliations

  • C. Mize
    • 2
  • J. L. Johnson
    • 1
  • K. V. Rajagopalan
    • 1
  1. 1.Department of BiochemistryDuke University Medical CenterDurhamUSA
  2. 2.Department of PediatricsUT Southwestern Medical CenterDallasUSA