Aminoacylase 1 deficiency
Other names	Neurological conditions associated with aminoacylase 1 deficiency
Aminoacylase 1 deficiency is inherited in an autosomal recessive manner

Aminoacylase 1 deficiency is a rare inborn error of metabolism. To date only 21 cases have been described. ^{[1] [2]}

Contents

• Signs and symptoms
• Genetics
• Molecular biology
• Diagnosis
• History
• References
• External links

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.^{[ citation needed ]}

Genetics

This disorder in inherited in an autosomal recessive fashion.^{[ citation needed ]}

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-acetyl amino hydrolyzing enzymes, aminoacylase 1 is the most common.^{[ citation needed ]}

The ACY1 gene is located on the short arm of chromosome 3 (3p21.2).^{[ citation needed ]}

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.^{[ citation needed ]}

History

This disorder was first reported in 2005. ^[3]

References

External links