Aminoacylase 1 deficiency
Your Results
Sign InDescription
Aminoacylase-1 deficiency (ACY1D) is a rare autosomal recessive inborn error of metabolism characterized by increased urinary excretion of specific N-actyl amino acids. Most patients show neurologic abnormalities such as intellectual disability, seizures, hypotonia, and motor delay (summary by Ferri et al., 2014).
Mode of Inheritance
- Autosomal recessive inheritance
VARIANTS
16