Aminoacylase 1 deficiency
Aminoacylase 1 deficiency is a rare inborn error of metabolism. To date only 21 cases have been described.[1][2]
Signs and symptoms[edit | edit source]
The clinical picture is heterogeneous and includes motor delay, seizures, moderate to severe mental retardation, absent speech, growth delay, muscular hypotonia and autistic features.
Genetics[edit | edit source]
This disorder in inherited in an autosomal recessive fashion.
Molecular biology[edit | edit source]
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.
The ACY1 gene is located on the short arm of chromosome 3 (3p21.2).
Diagnosis[edit | edit source]
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.
Treatment[edit | edit source]
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History[edit | edit source]
This disorder was first reported in 2005.[3]
References[edit | edit source]
- ↑ Ferri L, Funghini S, Fioravanti A, Biondi E, La Marca G, Guerrini R, Donati M, Morrone A (2013) Aminoacylase I deficiency due to ACY1 mRNA exon skipping. Clin Genet doi: 10.1111/cge.12297
- ↑ Sass JO, Mohr V, Olbrich H, Engelke U, Horvath J, Fliegauf M, Loges NT, Schweitzer-Krantz S, Moebus R, Weiler P, Kispert A, Superti-Furga A, Wevers RA, Omran H (2006) Mutations in ACY1, the gene encoding aminoacylase 1, cause a novel inborn error of metabolism. Am J Hum Genet 78(3):401-409
- ↑ Van Coster RN, Gerlo EA, Giardina TG, Engelke UF, Smet JE, De Praeter CM, Meersschaut VA, De Meirleir LJ, Seneca SH, Devreese B, Leroy JG, Herga S, Perrier JP, Wevers RA, Lissens W (2005) Aminoacylase I deficiency: a novel inborn error of metabolism. Biochem Biophys Res Commun 338(3):1322-1326
External links[edit | edit source]
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