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Aminoacylase 1 deficiency associated with autistic behavior
Anna Tylki-Szymanska1, Wanda Gradowska, Anke Sommer
1Department of Metabolic Diseases, Endocrinology and Diabetology, The Children's Memorial Health Institute, Al. Dzieci Polskich 20, 04-730 Warsaw, Poland.
Journal of Inherited Metabolic Disease
|May 19, 2010
Summary
Aminoacylase 1 (ACY1) deficiency, a metabolic disorder, can present with autistic features. This case highlights a patient with ACY1 deficiency and autistic syndrome, identified through metabolic screening.
Area of Science:
- Biochemistry
- Genetics
- Metabolic Disorders
Background:
- Aminoacylase 1 (ACY1) deficiency is an emerging inborn error of metabolism.
- The precise relationship between ACY1 deficiency and neurological symptoms remains unclear.
- Inborn errors of metabolism (IEM) screening is crucial for diagnosing rare genetic disorders.
Observation:
- A patient diagnosed with autistic syndrome underwent metabolic evaluation.
- Gas chromatography-mass spectrometry (GC-MS) revealed elevated urinary N-acetylated amino acids.
- Reduced ACY1 enzyme activity was detected in lymphoblasts.
Findings:
- A homozygous c.1057C>T mutation in the ACY1 gene was identified, leading to a p.Arg353Cys substitution.
- The patient presented with autistic features and deficient ACY1 activity.
- Parents were heterozygous carriers with normal metabolic profiles.
Implications:
- This case strengthens the link between ACY1 deficiency and neurological presentations, specifically autistic syndrome.
- Highlights the importance of ACY1 in neurodevelopmental pathways.
- Suggests ACY1 deficiency as a potential, albeit rare, metabolic cause of autism spectrum disorder.
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