Aminoacylase 1 deficiency is rare. Only 17 affected individuals have been reported in the literature.
Individuals with aminoacylase 1 deficiency are characterized by increased urinary excretion of N-acylated amino acids. The clinical presentation is variable, ranging from asymptomatic individuals to neurological features, comprising seizures, hypotonia, microcephaly, sensorineural hearing loss, and autism spectrum behaviour and psychomotor impairment.
Aminoacylase 1 deficiency due to ACY1 gene variants is inherited in an autosomal recessive manner. The most frequently identified variation in ACY1 is the c.1057C>T (p.Arg353Cys).
The treatment is symptomatic. A causal relationship between the genetic variants and a defined clinical phenotype remains to be proven.
ACY1