The single patient with ACY3 deficiency reported so far presented with homozygosity for the variant ACY3:NM_080658:exon5:c.512C>A:p.Ala171Asp.
ACY3ACY3The single patient with ACY3 deficiency reported so far presented with homozygosity for the variant ACY3:NM_080658:exon5:c.512C>A:p.Ala171Asp.