Aminoacylase 1 deficiency
ORPHA:137754· ICD-10 E72.8
Definition
A rare inborn error of metabolism (organic aciduria) characterized by elevated urinary levels of numerous N-acetylated amino acids. A causal relationship with a specific clinical phenotype is uncertain.
- Prevalence
- <1 / 1 000 000
- Inheritance
- Autosomal recessive
- Age of onset
- Childhood