Meta-Biol

• Pathways

Cytosolic aminocyclases 1 and 3 (ACY1,3) can hydrolyse N-acylated amino acids and N-acylcysteine-S-conjugates (Lindner et al. 2003). They are functional as dimers and utilise zinc as a cofactor. Defects in ACY1 can cause aminoacylase 1 deficiency (ACY1D; MIM:609924), leading to acute encephalopathy, seizures, impaired psychomotor development and increased urinary excretion of several N-acetylated amino acids. The missense mutation R353C is associated with recessive loss-of-function phenotype and is the most common cause of enzyme deficiency (Sass et al. 2006, Sass et al. 2007).