Urocanic aciduria

Jump to navigation Jump to search
The printable version is no longer supported and may have rendering errors. Please update your browser bookmarks and please use the default browser print function instead.
Urocanic aciduria
Error creating thumbnail: File missing
Urocanic acid
ICD-10 E70.8
ICD-9 270.5
OMIM 276880
DiseasesDB 32605
MeSH D014560

WikiDoc Resources for Urocanic aciduria

Articles

Most recent articles on Urocanic aciduria

Most cited articles on Urocanic aciduria

Review articles on Urocanic aciduria

Articles on Urocanic aciduria in N Eng J Med, Lancet, BMJ

Media

Powerpoint slides on Urocanic aciduria

Images of Urocanic aciduria

Photos of Urocanic aciduria

Podcasts & MP3s on Urocanic aciduria

Videos on Urocanic aciduria

Evidence Based Medicine

Cochrane Collaboration on Urocanic aciduria

Bandolier on Urocanic aciduria

TRIP on Urocanic aciduria

Clinical Trials

Ongoing Trials on Urocanic aciduria at Clinical Trials.gov

Trial results on Urocanic aciduria

Clinical Trials on Urocanic aciduria at Google

Guidelines / Policies / Govt

US National Guidelines Clearinghouse on Urocanic aciduria

NICE Guidance on Urocanic aciduria

NHS PRODIGY Guidance

FDA on Urocanic aciduria

CDC on Urocanic aciduria

Books

Books on Urocanic aciduria

News

Urocanic aciduria in the news

Be alerted to news on Urocanic aciduria

News trends on Urocanic aciduria

Commentary

Blogs on Urocanic aciduria

Definitions

Definitions of Urocanic aciduria

Patient Resources / Community

Patient resources on Urocanic aciduria

Discussion groups on Urocanic aciduria

Patient Handouts on Urocanic aciduria

Directions to Hospitals Treating Urocanic aciduria

Risk calculators and risk factors for Urocanic aciduria

Healthcare Provider Resources

Symptoms of Urocanic aciduria

Causes & Risk Factors for Urocanic aciduria

Diagnostic studies for Urocanic aciduria

Treatment of Urocanic aciduria

Continuing Medical Education (CME)

CME Programs on Urocanic aciduria

International

Urocanic aciduria en Espanol

Urocanic aciduria en Francais

Business

Urocanic aciduria in the Marketplace

Patents on Urocanic aciduria

Experimental / Informatics

List of terms related to Urocanic aciduria


Urocanic aciduria, also called urocanate hydratase deficiency or urocanase deficiency,[1] is an autosomal recessive metabolic disorder caused by a deficiency of the enzyme urocanase. It is a secondary disorder of histidine metabolism.[2]

Pathophysiology

The amino acid histidine, when catalyzed by the enzyme histidase, forms urocanic acid. Disruptions in this pathway, caused by a deficiency of histidase, is the underlying cause of histidinemia. This results in reduced levels of skin and serum urocanic acid, the primary indicator of insufficient histidase activity.

In urocanic aciduria, increased urocanic acid in the urine indicates a deficiency of the enzyme urocanase. This enzyme breaks down urocanic acid, forming formininoglutamic acid, and also forms imidazolonepropionic acid from trans-urocanic acid.

With normal to only slightly elevated levels of histidine present in the liver during urocanic aciduria, the only true metabolic indicator of the disorder can be found in the urine.[2]

Symptoms

Urocanic aciduria is thought to be relatively benign.[2] Although aggressive behavior and mental retardation have been reported with the disorder,[3] no definitive neurometabolic connection has yet been established.[2]

Genetics

Urocanic aciduria has an autosomal recessive pattern of inheritance.

Urocanic aciduria has an autosomal recessive inheritance pattern, which means the defective gene is located on an autosome, and two copies of the gene - one copy inherited from each parent - are required in order to be born with the disorder. The parents of an individual with an autosomal recessive disorder both carry one copy of the defective gene, but are usually not affected by the disorder.

See also

References

  1. Imaeda M, Wada Y (1998). "Urocanic aciduria (urocanase deficiency)". Ryoikibetsu Shokogun Shirizu. 18 (1): 150–151. PMID 9590012.
  2. 2.0 2.1 2.2 2.3 Disorders of histidine metabolism.
    http://www.ommbid.com/OMMBID/the_online_metabolic_and_molecular_bases_of_inherited_disease/b/abstract/part8/ch80
  3. Kalafatic Z, Lipovac K, Jezerinac Z, Juretic D, Dumic M, Zurga M, Res L (1980). "A liver urocanase deficiency". Metabolism. 29 (11): 1013–1019. doi:10.1016/0026-0495(80)90209-7. PMID 6107814.

Template:WH Template:WS