ornithine translocase deficiency

info · Genetic

An amino acid metabolic disorder that has_material_basis_in deficiency of ornithine translocase resulting in the accumulation of ammonia in the blood.

Signs and symptoms

Hyperornithinemia
Homocitrullinuria
Hyperammonemia
Global developmental delay
Abnormal pyramidal sign
Spastic paraplegia
Intellectual disability
Lethargy
Scanning speech
Acute encephalopathy

Also known as: HHH syndrome; Hyperornithinemia-Hyperammonemia-Homocitrullinuria (HHH) syndrome