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.

• Authors: C Mize, J L Johnson, K V Rajagopalan
• Journal: Journal of inherited metabolic disease (J Inherit Metab Dis) Vol. 18 Issue 3 Pg. 283-90 ( 1995) ISSN: 0141-8955 [Print] United States
• PMID: 7474893 (Publication Type: Case Reports, Journal Article, Research Support, U.S. Gov't, P.H.S.)

Chemical References

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

Topics

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