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
17562838 Neurological findings in aminoacylase 1 deficiency

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

Neurology 2007
16465618 Mutations in ACY1, the gene encoding aminoacylase 1, cause a novel inborn error of metabolism

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

Am. J. Hum. Genet. 2006
Participants
Participant Of
Disease
Name Identifier Synonyms
toxic encephalopathy 3602 Neurotoxicity (disorder), neurotoxicity, neurotoxicity syndrome, neurotoxicity
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