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hyperornithinemia-hyperammonemia-homocitrullinuria syndrome
Pathology:
- functional impairment of the urea cycle
- hyperammonemia
Genetics:
- autosomal recessive
- associated with defects in SLC25A15 are the cause of hyperornithinemia-hyperammonemia-homocitrullinuria syndrome
Clinical manifestations:
- mental retardation
- spastic paraparesis with pyramidal signs
- cerebellar ataxia
- episodic disturbance of consciousness or coma caused by hyperammonemia
General
urea cycle disorder
Database Correlations
OMIM 238970
References
OMIM :accession 238970