Ontology highlight
ABSTRACT:
SUBMITTER: Alessandri MG
PROVIDER: S-EPMC4221304 | biostudies-literature | 2014
REPOSITORIES: biostudies-literature
JIMD reports 20140706
Aminoacylase 1 (ACY1) deficiency is a rare inborn error of metabolism presenting with heterogeneous neurological symptoms such as psychomotor delay, seizures, intellectual disability and it is characterized by increased urinary excretion of N-acetylated amino acids. We report on a new patient who presented ACY1 deficiency in association with isolated mild intellectual disability, but neither neurological symptoms nor autistic features. The child showed a compound heterozygous mutation (p.Glu233A ...[more]