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

Publication ,  Journal Article
Mize, C; Johnson, JL; Rajagopalan, KV
Published in: J Inherit Metab Dis
1995

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.

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Published In

J Inherit Metab Dis

DOI

ISSN

0141-8955

Publication Date

1995

Volume

18

Issue

3

Start / End Page

283 / 290

Location

United States

Related Subject Headings

  • Sulfur
  • Spine
  • Radiography
  • Purines
  • Purine-Pyrimidine Metabolism, Inborn Errors
  • Pteridines
  • Molybdenum Cofactors
  • Molybdenum
  • Metalloproteins
  • Male
 

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Mize, C., Johnson, J. L., & Rajagopalan, K. V. (1995). Defective molybdopterin biosynthesis: clinical heterogeneity associated with molybdenum cofactor deficiency. J Inherit Metab Dis, 18(3), 283–290. https://doi.org/10.1007/BF00710416
Mize, C., J. L. Johnson, and K. V. Rajagopalan. “Defective molybdopterin biosynthesis: clinical heterogeneity associated with molybdenum cofactor deficiency.J Inherit Metab Dis 18, no. 3 (1995): 283–90. https://doi.org/10.1007/BF00710416.
Mize C, Johnson JL, Rajagopalan KV. Defective molybdopterin biosynthesis: clinical heterogeneity associated with molybdenum cofactor deficiency. J Inherit Metab Dis. 1995;18(3):283–90.
Mize, C., et al. “Defective molybdopterin biosynthesis: clinical heterogeneity associated with molybdenum cofactor deficiency.J Inherit Metab Dis, vol. 18, no. 3, 1995, pp. 283–90. Pubmed, doi:10.1007/BF00710416.
Mize C, Johnson JL, Rajagopalan KV. Defective molybdopterin biosynthesis: clinical heterogeneity associated with molybdenum cofactor deficiency. J Inherit Metab Dis. 1995;18(3):283–290.
Journal cover image

Published In

J Inherit Metab Dis

DOI

ISSN

0141-8955

Publication Date

1995

Volume

18

Issue

3

Start / End Page

283 / 290

Location

United States

Related Subject Headings

  • Sulfur
  • Spine
  • Radiography
  • Purines
  • Purine-Pyrimidine Metabolism, Inborn Errors
  • Pteridines
  • Molybdenum Cofactors
  • Molybdenum
  • Metalloproteins
  • Male