Chapter title |
Isolated Mild Intellectual Disability Expands the Aminoacylase 1 Phenotype Spectrum
|
---|---|
Chapter number | 323 |
Book title |
JIMD Reports Volume 16
|
Published in |
JIMD Reports, July 2014
|
DOI | 10.1007/8904_2014_323 |
Pubmed ID | |
Book ISBNs |
978-3-66-244586-0, 978-3-66-244587-7
|
Authors |
Maria G. Alessandrì, Manuela Casarano, Ilaria Pezzini, Stefano Doccini, Claudia Nesti, Giovanni Cioni, Roberta Battini |
Abstract |
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.Glu233Asp) and a novel p.Ser192Arg fs*64, predicting an unstable transcript and resulting in very low protein levels.This new ACY1 deficient child was identified through regular screening for inborn error of metabolism adopted in our department in all cases of intellectual disability. This report supports a recommendation to perform metabolic investigations in patients with isolated mild intellectual disability. |
Mendeley readers
Geographical breakdown
Country | Count | As % |
---|---|---|
Unknown | 10 | 100% |
Demographic breakdown
Readers by professional status | Count | As % |
---|---|---|
Researcher | 3 | 30% |
Other | 1 | 10% |
Student > Ph. D. Student | 1 | 10% |
Professor | 1 | 10% |
Student > Master | 1 | 10% |
Other | 1 | 10% |
Unknown | 2 | 20% |
Readers by discipline | Count | As % |
---|---|---|
Biochemistry, Genetics and Molecular Biology | 3 | 30% |
Medicine and Dentistry | 2 | 20% |
Computer Science | 1 | 10% |
Nursing and Health Professions | 1 | 10% |
Neuroscience | 1 | 10% |
Other | 1 | 10% |
Unknown | 1 | 10% |