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Deficiency of xanthine oxidase(XAN1)

MedGen UID:
82771
Concept ID:
C0268118
Disease or Syndrome
Synonyms: XAN1; Xanthine dehydrogenase deficiency; Xanthine oxidase deficiency; Xanthinuria type 1; Xanthinuria, Type I; XDH deficiency
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
Concept ID:
C0441748
Intellectual Product
Sources: HPO, OMIM, Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in homozygotes. In the context of medical genetics, autosomal recessive disorders manifest in homozygotes (with two copies of the mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele). [HPO:curators]
Autosomal recessive inheritance (HPO, OMIM, Orphanet)
SNOMED CT: Isolated xanthine oxidase deficiency (72682008); Classical xanthinuria (72682008); Hereditary xanthinuria, type I (72682008); Deficiency of hypoxanthine oxidase (124147007); Deficiency of xanthine oxidase (124147007); Xanthine oxidase deficiency (124147007); Hereditary xanthinuria type 1 (124147007)
 
Gene (location): XDH (2p23.1)
OMIM®: 278300
Orphanet: ORPHA93601

Definition

Xanthinuria, which was first described by Dent and Philpot (1954), is characterized by excretion of large amounts of xanthine in the urine and a tendency to form xanthine stones. Uric acid is strikingly diminished in serum and urine. Two clinically similar but distinct forms of xanthinuria are recognized. In type I there is an isolated deficiency of xanthine dehydrogenase, and in type II (XAN2; 603592) there is a dual deficiency of xanthine dehydrogenase and aldehyde oxidase (603592). Type I patients can metabolize allopurinol, whereas type II patients cannot (Simmonds et al., 1995). Xanthinuria also occurs in molybdenum cofactor deficiency (252150). Type II xanthinuria is caused by mutation in the MOCOS gene (613274), which encodes the enzyme that sulfurates the molybdenum cofactor for XDH and AOX1 (602841). [from OMIM]

Additional description

From GHR
Hereditary xanthinuria is a condition that most often affects the kidneys. It is characterized by high levels of a compound called xanthine and very low levels of another compound called uric acid in the blood and urine. The excess xanthine can accumulate in the kidneys and other tissues. In the kidneys, xanthine forms tiny crystals that occasionally build up to create kidney stones. These stones can impair kidney function and ultimately cause kidney failure. Related signs and symptoms can include abdominal pain, recurrent urinary tract infections, and blood in the urine (hematuria). Less commonly, xanthine crystals build up in the muscles, causing pain and cramping. In some people with hereditary xanthinuria, the condition does not cause any health problems.Researchers have described two major forms of hereditary xanthinuria, types I and II. The types are distinguished by the enzymes involved; they have the same signs and symptoms.  https://ghr.nlm.nih.gov/condition/hereditary-xanthinuria

Clinical features

Hydronephrosis
MedGen UID:
42531
Concept ID:
C0020295
Disease or Syndrome
Abnormal enlargement or swelling of a KIDNEY due to dilation of the KIDNEY CALICES and the KIDNEY PELVIS. It is often associated with obstruction of the URETER or chronic kidney diseases that prevents normal drainage of urine into the URINARY BLADDER.
Pyelonephritis
MedGen UID:
19590
Concept ID:
C0034186
Disease or Syndrome
An inflammation of the kidney involving the parenchyma of kidney, the renal pelvis and the kidney calices.
Xanthine nephrolithiasis
MedGen UID:
376358
Concept ID:
C1848431
Finding
The presence of xanthine-containing calculi (stones) in the kidneys.
Muscular Diseases
MedGen UID:
10135
Concept ID:
C0026848
Disease or Syndrome
A disorder of muscle unrelated to impairment of innervation or neuromuscular junction.
Pyelonephritis
MedGen UID:
19590
Concept ID:
C0034186
Disease or Syndrome
An inflammation of the kidney involving the parenchyma of kidney, the renal pelvis and the kidney calices.
Xanthinuria
MedGen UID:
450997
Concept ID:
C0220988
Disease or Syndrome
An increased concentration of xanthine in the urine.
Abnormality of metabolism/homeostasis
MedGen UID:
867398
Concept ID:
C4021768
Finding
Reduced xanthine dehydrogenase activity
MedGen UID:
892399
Concept ID:
C4025600
Finding
An abnormal reduction in xanthine dehydrogenase activity.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
Follow this link to review classifications for Deficiency of xanthine oxidase in Orphanet.

Recent clinical studies

Etiology

Bonioli E, DiStefano A, Palmieri A, Bertola A, Bellini C, Caruso U, Fantasia AR, Minniti G, Dorche C
J Inherit Metab Dis 1996;19(5):700-1. PMID: 8892030
Fujitaka M, Sakura N, Ueda K, Konishi H, Yoshida S, Yamasaki T
J Inherit Metab Dis 1991;14(5):843-4. PMID: 1779639
Desjacques P, Mousson B, Vianey-Liaud C, Boulieu R, Bory C, Baltassat P, Divry P, Zabot MT, Cotte J, Lagier P
J Inherit Metab Dis 1985;8 Suppl 2:117-8. PMID: 3930856
Beemer FA, Delleman JW
Metab Pediatr Ophthalmol 1980;4(1):49-52. PMID: 6969337
Duran M, Beemer FA, van de Heiden C, Korteland J, de Bree PK, Brink M, Wadman SK, Lombeck I
J Inherit Metab Dis 1978;1(4):175-8. PMID: 117254

Diagnosis

Gargah T, Essid A, Labassi A, Hamzaoui M, Lakhoua MR
Saudi J Kidney Dis Transpl 2010 Mar;21(2):328-31. PMID: 20228523
Desjacques P, Mousson B, Vianey-Liaud C, Boulieu R, Bory C, Baltassat P, Divry P, Zabot MT, Cotte J, Lagier P
J Inherit Metab Dis 1985;8 Suppl 2:117-8. PMID: 3930856

Therapy

Fujitaka M, Sakura N, Ueda K, Konishi H, Yoshida S, Yamasaki T
J Inherit Metab Dis 1991;14(5):843-4. PMID: 1779639

Clinical prediction guides

Duran M, Beemer FA, van de Heiden C, Korteland J, de Bree PK, Brink M, Wadman SK, Lombeck I
J Inherit Metab Dis 1978;1(4):175-8. PMID: 117254

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