Disease Information for Xanthinuria

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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
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Wikipedia
Merck
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PubMed (National Library of Medicine)
NGC (National Guideline Clearinghouse)
Medscape (eMedicine)
Harrison's Online (accessmedicine)
NEJM (The New England Journal of Medicine)
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