Mutations in ACY1, the Gene Encoding Aminoacylase 1, Cause a Novel Inborn Error of Metabolism

In a paper published online on January 18, 2006, in the American Journal of Human Molecular Genetics, Sass et al. present four children with genetic deficiency of ACY1. Mutation analysis uncovered recessive loss-of-function or missense ACY1 mutations in all four individuals affected. The authors conclude that ACY1 mutations in these children led to functional ACY1 deficiency and excretion of N-acetylated amino acids. The clinical significance of ACY1 deficiency is discussed in the light of the awareness of this new genetic entity.

Author contacts:

Jörn Oliver Sass
Department of General Pediatrics and Adolescent Medicine, University Children's Hospital Freiburg, Freiburg, Germany.

Heymut Omran
Department of Pediatric Neurology and Muscle Disease, University Children's Hospital Freiburg, Freiburg, Germany.

Abstract available online.

(C) American Journal of Human Molecular Genetics.

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