Urocanic aciduria

Encephalopathy due to urocanase deficiency is an extremely rare histidine metabolism disorder characterized by urocanic aciduria and other variable manifestations including intellectual deficit and intermittent ataxia in the 4 cases reported to date.



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Total: 1 (papers)

   


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Matched Phenotype  Gene  Mutation  MeSH
Rank
(Similarity)		 PMID
(PMCID)
1
(4.0%)		 19304569
 Mutations in the urocanase gene UROC1 are associated with urocanic aciduria.
Espinos C, Pineda M, Martinez-Rubio D, Lupo V, Ormazabal A, Vilaseca MA, Spaapen LJ, Palau F, Artuch R.
J Med Genet. 2009;46(6):407-11.
Ataxia
UROC1
p|SUB|L|70|P;RS#:137852796 p|SUB|R|450|C;RS#:137852795 rs137852795 rs137852796
Amino Acid Metabolism, Inborn Errors Amino Acid Sequence Ataxia Biological Markers Child Females Homo sapiens Intellectual Disability Models, Molecular Molecular Sequence Data Mutation Sequence Alignment Urocanate Hydratase Urocanic Acid
        

Phenotype(s) retrieved from Orphanet

    Total: 11

HPO ID Term Frequency
HP:0001251 Ataxia Very frequent (99-80%)
HP:0001260 Dysarthria Very frequent (99-80%)
HP:0002066 Gait ataxia Very frequent (99-80%)
HP:0002078 Truncal ataxia Very frequent (99-80%)
HP:0002136 Broad-based gait Very frequent (99-80%)
HP:0002345 Action tremor Very frequent (99-80%)
HP:0002719 Recurrent infections Very frequent (99-80%)
HP:0006801 Hyperactive deep tendon reflexes Very frequent (99-80%)
HP:0007979 Gaze-evoked horizontal nystagmus Very frequent (99-80%)
HP:0010904 Abnormal circulating histidine concentration Very frequent (99-80%)
HP:0012237 Urocanic aciduria Very frequent (99-80%)


Phenotype(s) retrieved from case reports

    Total: 1

HPO ID Term # of case reports
HP:0001251 Ataxia 1


Causative gene(s) retrieved from Orphanet

    Total: 1

Gene Symbol Gene Name Entrez Gene ID
UROC1 urocanate hydratase 1 131669