Mutations in ACY 1 , the Gene Encoding Aminoacylase 1 , Cause a Novel Inborn Error of Metabolism

Departments of General Pediatrics and Adolescent Medicine and Pediatric Neurology and Muscle Disease, University Children’s Hospital Freiburg, Freiburg, Germany; Radboud University Medical Centre, Nijmegen, The Netherlands; Evangelisches Krankenhaus, Düsseldorf; Pediatric Practice, Bad Homburg, Germany; Children’s Hospital, Dortmund, Germany; and Institute for Molecular Biology, Hannover Medical School, Hannover, Germany