Defective ACY1 causes encephalopathy

Stable Identifier
R-HSA-5579007
Type
Pathway
Species
Homo sapiens
ReviewStatus
5/5
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Defective ACY1 causes encephalopathy
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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
Events
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as an event of
Disease
Name Identifier Synonyms
toxic encephalopathy DOID:3602 Neurotoxicity (disorder), neurotoxicity, neurotoxicity syndrome, neurotoxicity
Authored
Jassal, B  (2014-06-06)
Reviewed
Nakaki, T  (2014-11-03)
Created
Jassal, B  (2014-06-06)
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