Argininemia
ORPHA:90· ICD-10 E72.2
Definition
A rare autosomal recessive amino acid metabolism disorder characterized by variable degrees of hyperammonemia leading to progressive loss of developmental milestones and spasticity in the absence of treatment.
- Prevalence
- <1 / 1 000 000
- Inheritance
- Autosomal recessive
- Age of onset
- Childhood, Infancy