Aminoacylase 1 deficiency is a rare inborn error of metabolism. To date only 21 cases have been described.
Contents
History
This disorder was first reported in 2005.
Molecular biology
Aminoacylase 1 (ACY1: EC 3.5.14) is a zinc binding enzyme which hydrolyzes N-acetyl amino acids into the free amino acid and acetic acid. Of the N-actyl amino hydrolyzing enzymes, aminoacylase 1 is the most common.
The ACY1 gene is located on the short arm of chromosome 3 (3p21.2).
Genetics
This disorder in inherited in an autosomal recessive fashion.
Signs and symptoms
The clinical picture is heterogeneous and includes motor delay, seizures, moderate to severe mental retardation, absent speech, growth delay, muscular hypotonia and autistic features.
Diagnosis
There is a specific pattern of N-acetyl amino acid excretion in the urine. The diagnosis can be confirmed by sequencing of the aminoacylase 1 gene.