Defective ACY1 causes encephalopathy

Stable Identifier
R-HSA-5579007
Type
Pathway
Species
Homo sapiens
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Aminoacylase 1 (ACY1) is a cytosolic, homodimeric zinc-binding metalloenzyme with a wide range of tissue expression. It hydrolyses acylated L-amino acids (except L-aspartate) into L-amino acids and an acyl group. It can also hydrolyse N-acetylcysteine-S-conjugates. Defects in ACY1 can cause aminoacylase-1 deficiency (ACY1D; MIM:609924) resulting in encephalopathy, delay in psychomotor development, seizures and increased urinary excretion of several N-acetylated amino acids (Sass et al. 2006, Sass et al. 2007).

Literature References
PubMed ID Title Journal Year
16465618 Mutations in ACY1, the gene encoding aminoacylase 1, cause a novel inborn error of metabolism

Kispert, A, Engelke, U, Moebus, R, Superti-Furga, A, Schweitzer-Krantz, S, Weiler, P, Fliegauf, M, Omran, H, Olbrich, H, Wevers, RA, Sass, JO, Horvath, J, Mohr, V, Loges, NT

Am. J. Hum. Genet. 2006
17562838 Neurological findings in aminoacylase 1 deficiency

Hart, C, Woldseth, B, Olbrich, H, Sass, JO, Omran, H, Lakhani, PK, Krywawych, S, Bjurulf, B, Mohr, V, Buchdahl, RM

Neurology 2007
Participants
Participates
Disease
Name Identifier Synonyms
toxic encephalopathy DOID:3602 Neurotoxicity (disorder), neurotoxicity, neurotoxicity syndrome, neurotoxicity
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