GTR Home > Conditions/Phenotypes > Arginase deficiency

Disease characteristics

Excerpted from the GeneReview: Arginase Deficiency
Arginase deficiency in untreated individuals is characterized by episodic hyperammonemia of variable degree that is infrequently severe enough to be life threatening or to cause death. Most commonly, birth and early childhood are normal. Untreated individuals have slowing of linear growth at age one to three years, followed by development of spasticity, plateauing of cognitive development, and subsequent loss of developmental milestones. If untreated, arginase deficiency usually progresses to severe spasticity, loss of ambulation, complete loss of bowel and bladder control, and severe intellectual disability. Seizures are common and are usually controlled easily.

Available tests

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Associated genes

Clinical features

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  • Irritability
  • EEG abnormalities
  • Intellectual disability
  • Cognitive impairment
  • Progressive spastic quadriplegia
  • Postnatal growth retardation
  • Seizure
  • Anorexia
  • Vomiting
  • Behavioral abnormality
  • Hyperactivity
  • Global developmental delay
  • Hyperammonemia
  • Neurological speech impairment
  • Oroticaciduria
  • Aminoaciduria
  • Hemiplegia/hemiparesis
  • Diaminoaciduria
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