Biomaterial Database

[Xanthine oxidase deficiency (hereditary xanthinuria), molybdenum cofactor deficiency]. 1996

S Sumi, and Y Wada

Department of Pediatrics, Nagoya City University Medical School.

Hereditary xanthinuria is a rare autosomal recessive disorder, with xanthine oxidase deficiency. Patients often display renal symptoms because they excrete a large amounts of xanthine in urine. An high-fluid-intake, alow-purine-food, and alkalinization of urine are effective in the patients. Molybdenum cofactor is essential for xanthine oxidase, sulfite oxidase and aldehyde oxidase. Patients with molybdenum cofactor deficiency display severe neurological symptoms, such as severe convulsions. The patients increase urinary excretions of xanthine and sulfite. Treatments are ineffective for neurological symptoms.

UI	MeSH Term	Description	Entries
D007231	Infant, Newborn	An infant during the first 28 days after birth.	Neonate,Newborns,Infants, Newborn,Neonates,Newborn,Newborn Infant,Newborn Infants
D008667	Metalloproteins	Proteins that have one or more tightly bound metal ions forming part of their structure. (Dorland, 28th ed)	Metalloprotein
D011621	Pteridines	Compounds based on pyrazino[2,3-d]pyrimidine which is a pyrimidine fused to a pyrazine, containing four NITROGEN atoms.	1,3,5,8-Tetraazanaphthalene,Pteridine,Pteridinone,Pyrazino(2,3-d)pyrimidine,Pyrazinopyrimidine,Pyrazinopyrimidines,Pyrimido(4,5-b)pyrazine,Pteridinones
D011686	Purine-Pyrimidine Metabolism, Inborn Errors	Dysfunctions in the metabolism of PURINES or PYRIMIDINES resulting from inborn genetic mutations that are inherited or acquired in utero.	Purine Pyrimidine Metabolism, Inborn Errors
D002493	Central Nervous System Diseases	Diseases of any component of the brain (including the cerebral hemispheres, diencephalon, brain stem, and cerebellum) or the spinal cord.	CNS Disease,Central Nervous System Disease,Central Nervous System Disorder,CNS Diseases,Central Nervous System Disorders
D003067	Coenzymes	Small molecules that are required for the catalytic function of ENZYMES. Many VITAMINS are coenzymes.	Coenzyme,Enzyme Cofactor,Cofactors, Enzyme,Enzyme Cofactors,Cofactor, Enzyme
D003937	Diagnosis, Differential	Determination of which one of two or more diseases or conditions a patient is suffering from by systematically comparing and contrasting results of diagnostic measures.	Diagnoses, Differential,Differential Diagnoses,Differential Diagnosis
D004035	Diet Therapy	Adjusting the quantity and quality of food intake to improve health status of an individual. This term does not include the methods of food intake (NUTRITIONAL SUPPORT).	Diet Therapy, Restrictive,Dietary Modification,Dietary Restriction,Restriction Diet Therapies,Restriction Diet Therapy,Restrictive Diet Therapies,Restrictive Diet Therapy,Diet Modification,Therapy, Diet,Diet Modifications,Diet Therapies,Diet Therapies, Restriction,Diet Therapy, Restriction,Dietary Modifications,Dietary Restrictions,Modification, Diet,Modification, Dietary,Restriction, Dietary,Therapy, Restriction Diet,Therapy, Restrictive Diet
D006801	Humans	Members of the species Homo sapiens.	Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D000090006	Molybdenum Cofactors	Enzyme co-factors that contain MOLYBDENUM. They play an essential role in a variety of cellular REDOX reactions.	Molybdenum-Containing Cofactors,Pterin-based Molybdenum Cofactor,Pterin-based Molybdenum Cofactors,Cofactor, Pterin-based Molybdenum,Cofactors, Molybdenum,Cofactors, Molybdenum-Containing,Cofactors, Pterin-based Molybdenum,Molybdenum Cofactor, Pterin-based,Molybdenum Cofactors, Pterin-based,Molybdenum Containing Cofactors,Pterin based Molybdenum Cofactor,Pterin based Molybdenum Cofactors