Aminoacylase 1 deficiency
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| 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]
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]