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

More general terms

• urea cycle disorder

Database

• OMIM: https://mirror.omim.org/entry/238970