Aminoacylase 1 deficiency is an autosomal recessive disease characterized by accumulation of N-acetyl amino acids in the urine. In affected individuals neurological findings such as febrile seizures, delay of psychomotor development and moderate mental retardation have been reported.
Aminoacylase 2, also known as aspartoacylase (ASPA) hydrolyzes specifically N-acetyl-L-aspartate. ASPA deficiency causes spongy degeneration of the brain known as Canavan disease [DS:H00074]
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
タイトル
Mutations in ACY1, the gene encoding aminoacylase 1, cause a novel inborn error of metabolism.
