Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: EC:1.17.1.4 (xanthine dehydrogenase)
 1,236 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

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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PMID:Defective molybdopterin biosynthesis: clinical heterogeneity associated with molybdenum cofactor deficiency. 747 93

Molybdenum cofactor is essential for the function of three human enzymes: sulphite oxidase, xanthine dehydrogenase, and aldehyde oxidase. Molybdenum cofactor deficiency is a rare autosomal recessively inherited disease. Disturbed development and damage to the brain may occur as a result of accumulation of toxic levels of sulphite. The CT and MRI findings include severe early brain abnormalities and have been widely reported, but the cranial US imaging findings have seldom been reported. We report a chronological series of cranial US images obtained from an affected infant that show the rapid development of cerebral atrophy, calcifications and white matter cysts. Our report supports the utility of cranial US, a noninvasive bed-side technique, in the detection and follow-up of these rapidly changing lesions.
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PMID:Cranial ultrasound and chronological changes in molybdenum cofactor deficiency. 1770 13