Article
The molecular basis of aminoacylase 1 deficiency.
Biochimica et biophysica acta - 1 Jun 2011
Sommer Anke, Christensen Ernst, Schwenger Susanne, Seul Ralf, Haas Dorothea, Olbrich Heike, Omran Heymut, Sass Jörn Oliver
Abstract excerpt
Aminoacylase 1 is a zinc-binding enzyme which hydrolyzes N-acetyl amino acids into the free amino acid and acetic acid. Deficiency of aminoacylase 1 due to mutations in the aminoacylase 1 (ACY1) gene follows an autosomal-recessive trait of inheritance and is characterized by accumulation of N-acetyl amino acids in the urine. In affected individuals neurological findings such as febrile seizures, delay of...
Topics
- Amidohydrolases
- Amino Acid Metabolism, Inborn Errors
- Blotting, Western
- Cells, Cultured
- Child
- Child, Preschool
- Female
- Humans
- Male
- Models, Molecular
- Mutation
- Polymorphism, Restriction Fragment Length
- Protein Structure, Quaternary