hyperornithinaemia-hyperammonaemia-homocitrullinuria syndrome

hyperornithinaemia-hyperammonaemia-homocitrullinuria syndrome

An autosomal recessive disorder (OMIM:238970) caused by hyperammonaemia characterised by a functional impairment of the urea cycle resulting in neurologic symptoms, including mental retardation, spastic paraparesis with pyramidal signs, cerebellar ataxia, and episodic loss of consciousness or coma.

Molecular pathology
Caused by defects in SLC25A15, which encodes a mitochondrial carrier protein that transports ornithine and is a key component of the urea cycle.