Orphanet: Urocanic aciduria

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Urocanic aciduria

Disease definition

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.

ORPHA:210128

Synonym(s):
- Encephalopathy due to urocanase deficiency
Prevalence: <1 / 1 000 000
Inheritance: Autosomal recessive
Age of onset: Infancy, Neonatal
ICD-10: E70.8
OMIM: 276880
UMLS: C0268514
MeSH: -
GARD: -
MedDRA: -

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Urocanic aciduria

ORPHA:210128

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