This website provides information on patients with mutations in the ACY1 gene, including clinical data, molecular data, management and research options.
Aminoacylase 1 deficiency, caused by mutations in the ACY1 gene, is a rare autosomal recessive inborn error of metabolism that is often associated with variable neurological phenotypes and/or psychomotor impairment.
This website was created to share and collect information about clinic, management and research projects to gather more knowledge and provide better treatment of patients with mutations in the ACY1 gene.
Jörn Oliver Sass, Professor Dr. rer. nat., Bonn-Rhein-Sieg University of Applied Sciences, Rheinbach, Germany, joern.oliver.sass@h-brs.de
Lil Klaas, Scientific associate, Dipl.-Mol. Biomed., Bonn-Rhein-Sieg University of Applied Sciences, Rheinbach, Germany, lil.klaas@h-brs.de