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]
Geneticsedit
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.[citation needed]
Pathophysiologyedit
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.[citation needed]
In urocanic aciduria, increased urocanic acid in the urine indicates a deficiency of the enzyme urocanase.[citation needed]
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]
Diagnosisedit
This section is empty. You can help by adding to it. (August 2017)
Treatmentedit
This section is empty. You can help by adding to it. (August 2017)
^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.
External linksedit
May 09, 2024
urocanic, aciduria, autosomal, recessive, metabolic, disorder, caused, deficiency, enzyme, urocanase, secondary, disorder, histidine, metabolism, other, namesurocanate, hydratase, deficiency, urocanase, deficiency, urocanic, acid, contents, symptoms, signs, ge. Urocanic aciduria is an autosomal recessive metabolic disorder caused by a deficiency of the enzyme urocanase It is a secondary disorder of histidine metabolism 2 Urocanic aciduriaOther namesUrocanate hydratase deficiency or Urocanase deficiency 1 Urocanic acid Contents 1 Symptoms and signs 2 Genetics 3 Pathophysiology 4 Diagnosis 5 Treatment 6 See also 7 References 8 External linksSymptoms and signs editUrocanic 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 edit nbsp 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 citation needed Pathophysiology editThe 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 citation needed In urocanic aciduria increased urocanic acid in the urine indicates a deficiency of the enzyme urocanase citation needed 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 Diagnosis editThis section is empty You can help by adding to it August 2017 Treatment editThis section is empty You can help by adding to it August 2017 See also editInborn errors of metabolism Imidazole Aromatic amino acids Recessive disordersReferences edit Imaeda M Wada Y 1998 Urocanic aciduria urocanase deficiency Ryoikibetsu Shokogun Shirizu 18 1 150 151 PMID 9590012 a b c d Disorders of histidine metabolism http www ommbid com OMMBID the online metabolic and molecular bases of inherited disease b abstract part8 ch80 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 External links edit Retrieved from https en wikipedia org w index php title Urocanic aciduria amp oldid 1084523988, wikipedia, wiki, book, books, library,
