Families

Aminoacylase 1 deficiency is rare. Only 17 affected individuals have been reported in the literature.

The clinical presentation is variable, ranging from asymptomatic individuals to neurological features, comprising seizures, hypotonia, microcephaly, sensorineural hearing loss, autism spectrum behaviour and psychomotor impairment.

Aminoacylase 1 deficiency due to ACY1 gene variants is inherited in an autosomal recessive manner, which means that the parents of an affected child are typically not affected.

The treatment is symptomatic. A causal relationship between the genetic variants and a defined clinical phenotype remains to be proven.