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Information about Xanthinuria

Xanthinuria
Classification & external resources
The structure of xanthine.
ICD-10E79.8
ICD-9277.2
OMIM278300 603592
DiseasesDB14194 29821
eMedicineped/2452 
Xanthinuria, also known as Xanthine oxydase deficiency is a rare genetic disorder that causes a deficiency of xanthine oxidase, an enzyme necessary for converting xanthine to uric acid.

Sufferers have unusually high concentrations of xanthine in their blood and urine, which can lead to health problems such as renal failure and xanthine kidney stones, one of the rarest types of kidney stones.

Treatment

There is no specific treatment beyond maintaining a high fluid intake and avoiding foods that are high in purine.

References

  • Kojima T., Nishina T., Kitamura M., Hosoya T., Nishioka K. (1984). "Biochemical studies on the purine metabolism of four cases with hereditary xanthinuria". Clin Chim Acta. 137 (2): 189-98. PMID 6423323. 
  • Ichida K., Amaya Y., Kamatani N., et al. (1997). "Identification of two mutations in human xanthine dehydrogenase gene responsible for classical type I xanthinuria". Journal of Clinical Investigation 99 (10): 2391-2397. PMID 9153281. 
  • Dent C. E., Philpot G. R. (1954). "Xanthinuria, an inborn error (or deviation) of metabolism". The Lancet 266 (6804): 182-5. 
  • Hille R. (2006). "Structure and Function of Xanthine Oxidoreductase". European Journal of Inorganic Chemistry 2006 (10): 1905-2095. DOI:10.1002/ejic.200600087. 

External links

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Metabolic pathology (, )
Amino acidAromatic (Phenylketonuria, Alkaptonuria, Ochronosis, Tyrosinemia, Albinism, Histidinemia) - Branched chain (Maple syrup urine disease, Propionic acidemia, Methylmalonic acidemia, Isovaleric acidemia, 3-Methylcrotonyl-CoA carboxylase deficiency) - Transport (Cystinuria, Cystinosis, Hartnup disease, Fanconi syndrome) - Sulfur (Homocystinuria, Cystathioninuria) - Urea cycle disorder (N-Acetylglutamate synthase deficiency, Carbamoyl phosphate synthetase I deficiency, Ornithine transcarbamylase deficiency, Citrullinemia, Argininosuccinic aciduria, Hyperammonemia) - Glutaric acidemia type 1 - Sarcosinemia
CarbohydrateLactose intolerance - Glycogen storage disease (type I, type II, type III, type IV, type V, type VI, type VII) - fructose metabolism (Fructose intolerance, Fructose bisphosphatase deficiency, Essential fructosuria) - galactose metabolism (Galactosemia, Galactose-1-phosphate uridylyltransferase galactosemia, Galactokinase deficiency) - other intestinal carbohydrate absorption (Glucose-galactose malabsorption, Sucrose intolerance) - pyruvate metabolism and gluconeogenesis (PCD, PDHA) - Pentosuria - Renal glycosuria
Lipid storageSphingolipidoses/Gangliosidoses: GM2 gangliosidoses (Sandhoff disease, Tay-Sachs disease) - GM1 gangliosidoses - Mucolipidosis type IV - Gaucher's disease - Niemann-Pick disease - Farber disease - Fabry's disease - Metachromatic leukodystrophy - Krabbe disease
Neuronal ceroid lipofuscinosis (Batten disease) - Cerebrotendineous xanthomatosis - Cholesteryl ester storage disease (Wolman disease)
Other lipidLipoprotein/lipidemias: Hyperlipidemia - Hypercholesterolemia - Familial hypercholesterolemia - Xanthoma - Combined hyperlipidemia - Lecithin cholesterol acyltransferase deficiency - Tangier disease - Abetalipoproteinemia
Fatty acid: Adrenoleukodystrophy - Carnitine (Primary, I, II)
MineralCu Wilson's disease/Menkes disease - Fe Haemochromatosis - Zn Acrodermatitis enteropathica - PO43− Hypophosphatemia/Hypophosphatasia - Mg2+ Hypermagnesemia/Hypomagnesemia - Ca2+ Hypercalcaemia/Hypocalcaemia/Disorders of calcium metabolism
Fluid, electrolyte
and acid-base balance		Electrolyte disturbance - Na+ Hypernatremia/Hyponatremia - Acidosis (Metabolic, Respiratory, Lactic) - Alkalosis (Metabolic, Respiratory) - Mixed disorder of acid-base balance - H2O Dehydration/Hypervolemia - K+ Hypokalemia/Hyperkalemia - Cl− Hyperchloremia/Hypochloremia
Purine and pyrimidineHyperuricemia - Lesch-Nyhan syndrome - Xanthinuria
PorphyrinAcute intermittent, Gunther's, Cutanea tarda, Erythropoietic, Hepatoerythropoietic, Hereditary copro-, Variegate
BilirubinUnconjugated (Gilbert's syndrome, Crigler-Najjar syndrome) - Conjugated (Dubin-Johnson syndrome, Rotor syndrome)
GlycosaminoglycanMucopolysaccharidosis - 1:Hurler/Hunter - 3:Sanfilippo - 4:Morquio - 6:Maroteaux-Lamy - 7:Sly
GlycoproteinMucolipidosis - I-cell disease - Pseudo-Hurler polydystrophy - Aspartylglucosaminuria - Fucosidosis - Alpha-mannosidosis - Sialidosis
OtherAlpha 1-antitrypsin deficiency - Cystic fibrosis - Amyloidosis (Familial Mediterranean fever) - Acatalasia
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List of ICD-10 codes. The version for 2007 is available online at [1]

Chapter Blocks Title
I Certain infectious and parasitic diseases
II Neoplasms
III Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism
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The International Statistical Classification of Diseases and Related Health Problems (most commonly known by the abbreviation ICD
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The following is a list of codes for International Statistical Classification of Diseases and Related Health Problems. These codes are in the public domain.

See also


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eMedicine is an online clinical medical knowledge base that was founded in 1996 by Scott Plantz and Richard Lavely, two medical doctors. It was sold to WebMD in January 2006.
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A genetic disorder is a condition caused by abnormalities in genes or chromosomes. While some diseases, such as cancer, are due to genetic abnormalities acquired in a few cells during life, the term "genetic disease" most commonly refers to diseases present in all cells of the body
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The enzyme xanthine oxidase, or XO, (bovine milk enzyme is PDB 1FIQ , EC 1.17.3.2 ) catalyzes the oxidation of hypoxanthine to xanthine and can further catalyze the oxidation of xanthine to uric acid

Reaction

  • hypoxanthine + O2 + H2

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Not to be confused with xanthene.


Xanthine (IPA: /ˈzænθiːn, ˈzænθaɪn]/
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Uric acid (or urate) is an organic compound of carbon, nitrogen, oxygen and hydrogen with the formula C5H4N4O3.

Metabolic processes

Xanthine oxidase oxidizes oxypurines such as xanthine and hypoxanthine to uric acid.
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MeSH C12.777.419.780.500 Renal failure or kidney failure is the condition in which the kidneys fail to function adequately.

Biochemically, it is typically detected by an elevated serum creatinine.
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The Journal of Clinical Investigation (JCI or J Clin Invest) is a leading biomedical journal, which is radically different from many of its peers in having a high impact factor (in 2006, 15.754) and offering all its contents entirely free.
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European Journal of Inorganic Chemistry (usually abbreviated as Eur. J. Inorg. Chem., print-ISSN 1434-1948, CODEN EJICFO), is a peer-reviewed scientific journal for inorganic chemistry.
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A metabolic disorder is a medical disorder which affects the production of energy within individual human (or animal) cells. Most metabolic disorders are genetic, though a few are "acquired" as a result of diet, toxins, infections, etc.
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Pathology is the study and diagnosis of disease through examination of organs, tissues, cells and bodily fluids.
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amino acid is a molecule that contains both amine and carboxyl functional groups. In biochemistry, this term refers to alpha-amino acids with the general formula H2NCHRCOOH, where R is an organic substituent.
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Aromatic amino acids are amino acids which include an aromatic ring.

Examples include:
  • phenylalanine, tryptophan, and tyrosine
  • thyroxine

See also

  • Aromatic L-amino acid decarboxylase

External links

  • MeSH

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Phenylketonuria
Classification & external resources

Phenylalanine
ICD-10 E 70.0
ICD-9 270.1

OMIM 261600
DiseasesDB 9987
MedlinePlus 001166
eMedicine ped/1787   derm/712
MeSH D010661 Phenylketonuria (PKU
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MeSH D000474 Alkaptonuria (black urine disease, alcaptonuria or ochronosis) is a rare inherited genetic disorder of tyrosine metabolism. This is an autosomal recessive trait that is caused by a defect in the enzyme homogentisic acid oxidase (EC 1.13.11.
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MeSH D009794 Ochronosis is a dermatological disorder that results in the adverse pigmentation of cartilage from a long term buildup of phenylalanine or tyrosine.
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MeSH D020176 Tyrosinemia (or "Tyrosinaemia") is an error of metabolism, usually inborn, in which the body can not effectively break down the amino acid tyrosine.

Tyrosinemia is inherited in an autosomal recessive pattern.
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Albinism
Classification & external resources

Albinistic boy
ICD-10 E 70.3
ICD-9 270.2

OMIM 203100 103470 , 203200 , 203280 ,
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Histidinemia is a rare autosomal recessive metabolic disorder caused by a deficiency of the enzyme histidase. Histidase is needed for the metabolism of the amino acid histidine.
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branched-chain amino acids or BCAA is sometimes used to refer to the amino acids having aliphatic side-chains that are non-linear. These are leucine, isoleucine and valine.
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Maple syrup urine disease
Classification & external resources

Leucine (pictured above), isoleucine, and valine are the branched-chain amino acids which build up in MSUD.
ICD-10 E 71.0
ICD-9 270.
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Propionic acidemia
Classification & external resources

Propionic acid
ICD-10 E 71.1
ICD-9 270.3

OMIM 606054
DiseasesDB 29673 29904

eMedicine ped/1906   Propionic acidemia
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Methylmalonic acidemia (MMA, also known as "methylmalonic aciduria") is an inborn error of intermediary metabolism that may present in the early neonatal period with progressive encephalopathy and death due to a secondary hyperammonemia.
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