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- Disease Information
- Disease Comparison
-
Disease Processes ▼
- Auto Immune
- Vascular-Arteriosclerosis
- Biochemical
- Congenital-developmental
- Deficiency
- Degenrative-Necrosis
- Electromagnetic-Physics
- Eponymic
- Functional-Physiologic
- Hereditofamilial
- Iatrogenic
- Idiopathic
- Infected Organ-Abcess
- Infectious agent
- Inflammatory-Granulomatous
- Metabolic-Storage
- Neoplastic
- Poison Agent
- Poisoned Organ
- Radiation-Xray-trauma
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- Structural-Anatomic-Foreign body
- Surgical Procedure-Complication
- Trauma
- Use-age-Atrophic
- Endocrine-Vegetative
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Major Organs-Systems ▼
- Systemic
- Pediatric
- Nervous & Sensory System (Neurology)
- Cardiovascular System
- Respiratory (Pulmonary) System
- Gastro-Intestinal (Digestive) System
- Urinary System
- Dermatologic System
- Endocrine System
- Immune System
- Musculoskeletal System
- Genital Reproductive System
- Hematopoietic System (Hematology)
- Lymphatic System
- Tissue/Cells/Organelles
Disease Information for Xanthinuria
- Clinical Manifestations
- Signs & Symptoms
- Anorexia in Infant
- Failure to Thrive
- Failure to Thrive Child
- Failure to thrive/infant sign
- Feeding/Apetite Problems Child
- Vomiting in Children
- Cramping in Extremities
- Exertional Muscle Pain
- Muscle cramps/spasms
- Muscle weakness
- Muscle weakness/with repetitive challenge
- Stiffness
- Irritability/short tempered
- Spasms in Both Legs
- Arthritis Children
- Back Pain
- Flank Pain
- Polyuria
- Urine Frequency
- Asymptomatic patient
- Disease Progression
- Course/Chronic disorder
- Course/Chronic only
- Demographics & Risk Factors
- Ethnic or Racial Factors
- Mediterranean racial stock/population
- Middle Eastern Population
- Population Group
- Child
- Population/Pediatrics population
- Family History
- Family history/Metabolic disease
- Family history/Parental consanguinity
- Family history/Kidney stones
- Sex & Age Groups
- Population/Child
- Population/Child-Infant Only
- Population/Children/all
- Population/Male
- Population/Pre-teen
- Laboratory Tests
- Abnormal Lab Findings (Non Measured)
- URINE Dipstick /Blood abnormal
- Abnormal Lab Findings - Decreased
- Uric acid, serum (Lab)
- URINE Uric acid
- Abnormal Lab Findings - Increased
- Hypoxanthine serum level
- Xanthine serum level
- URINE Hematuria, microscopic
- URINE Hypoxanthine
- URINE Red blood cells
- URINE Xanthine
- Diagnostic Test Results
- Pathology
- BX/Jejunal enzyme assay/Abnormal
- BX/Liver biopsy Enzyme assay abnormal
- BX/Liver biopsy/Xanthine Oxydase Deficiency
- BX/Muscle Biopsy Abnormal
- BX/Muscle biopsy Crytalline Myopathy
- BX/Muscle Biopsy/Intracellular xanthine crystals
- BX/Muscle Crystalline Deposits
- BX/Renal Enzyme Assay abnormal
- BX/Renal Xanthine Oxidase Defect
- X-RAY With contrast
- IVP/Radiolucent kidney stone
- IVP/Ureter filling defect (Xray)
- Associated Diseases & Rule outs
- Associated Disease & Complications
- Biochemical myopathy
- Crystalluria
- Hydronephrosis
- Hypouricemia
- Kidney stone/Nephrolithiasis/Urolithiasis
- Kidney stone/Xanthine
- Myopathy
- Myopathy/secondary/nonspecific
- Polyarthritis in Children
- Polyarthritis syndrome/Multiple joints/weeks
- Renal colic
- Renal Failure Chronic
- Synovitis/arthritis
- Urinary tract infection
- Xanthinuria
- PolyArthritis
- Hematuria
- Disease Synergy - Causes
- Synergy/Dehydration
- Disease Mechanism & Classification
- Pathophysiology
- Pathophysiology/Gene locus 2P23-P22
- Pathophysiology/Gene locus Chromosome 2
- Pathophysiology/Gene locus Chromosome 2p
- Pathophysiology/Genomic indentifiers (polymorphism/snip/mutations)
- Pathophysiology/Type II cannot metabolize Allopurinol
- Pathophysiology/Xanthine oxidase deficiency
- Pathophysiology/Metabolic myopathy (ex)
- Pathophysiology/Crystal-induced uropathy
- Process
- PROCESS/Autosomal recessive disorder (ex)
- PROCESS/Hereditofamilial (category)
- PROCESS/INCIDENCE/Rare disease (ex)
- PROCESS/Metabolic/storage disorder (category)
- PROCESS/Metabolic/urine excretion disorders (ex)
- Synonyms
- Synonym
- Xanthinuria, Synonym/Hereditary Xanthinuria, Synonym/Xanthine Dehydrogenase Deficiency, Synonym/Xanthine Oxidase Deficiency, Synonym/Xanthinuria Type I, Synonym/XDH Deficiency
- Treatment
- Other Treatments
- TX/Extra more frequent water intake
- TX/Low protein diet
- Definition
-
A disease characterised by high levels of xanthine in blood and urine. Caused by a genetic defect in the gene encoding the enzyme xanthine oxidase.
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- External Links Related to Xanthinuria
- Wikipedia
- Merck
- Images
- PubMed (National Library of Medicine)
- NGC (National Guideline Clearinghouse)
- Medscape (eMedicine)
- Harrison's Online (accessmedicine)
- NEJM (The New England Journal of Medicine)