Aminoacylase 1 deficiency

From Wikipedia, the free encyclopedia
Jump to: navigation, search

Aminoacylase 1 deficiency is a rare inborn error of metabolism. To date only 20 cases have been described.[1][2]

History[edit]

This disorder was first reported in 2005.[3]

Molecular biology[edit]

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[edit]

This disorder in inherited in an autosomal recessive fashion.

Signs and symptoms[edit]

The clinical picture is heterogeneous and includes including motor delay, seizures, moderate to severe mental retardation, absent speech, growth delay, muscular hypotonia and autistic features.

Diagnosis[edit]

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.

References[edit]

  1. ^ 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
  2. ^ 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
  3. ^ 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