Premium
Combined xanthine and sulphite oxidase defect due to a deficiency of molybdenum cofactor
Author(s) -
Roesel R. A.,
Bowyer F.,
Blankenship P. R.,
Hommes F. A.
Publication year - 1986
Publication title -
journal of inherited metabolic disease
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.462
H-Index - 102
eISSN - 1573-2665
pISSN - 0141-8955
DOI - 10.1007/bf01800483
Subject(s) - molybdenum cofactor , hypoxanthine , xanthine oxidase , uric acid , xanthine , cofactor , molybdenum , xanthine dehydrogenase , medicine , endocrinology , biochemistry , chemistry , urinary system , excretion , urine , urate oxidase , enzyme , inorganic chemistry
Increased urinary excretion of xanthine, hypoxanthine, sulphite, thiosulphate and decreased serum uric acid were observed in an infant with profound failure to thrive. Other clinical findings included refractory seizures, spastic quadriplegia and profound psychomotor retardation. The patient died at 20 months of age. There were no detectable activities for xanthine oxidase and sulphite oxidase in the postmortem liver. Urothione, which is the metabolic excretory product of the molybdenum cofactor for molybdoenzymes was not present in the urine. A deficiency of the molybdenum cofactor which is common to both xanthine and sulphite oxidase is presumed to be the metabolic defect responsible for the absent activities of both enzymes.