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Autism spectrum disorder in a child with propionic acidemia.
M Al-Owain1, N Kaya, H Al-Shamrani
1Department of Medical Genetics, King Faisal Specialist Hospital and Research Centre, 3354, Riyadh, 11211, Saudi Arabia, alowain@kfshrc.edu.sa.
JIMD Reports
|February 23, 2013
Summary
This report details autism in a child with propionic acidemia, a metabolic disorder. Early autism diagnosis in metabolic conditions aids crucial behavioral support.
Area of Science:
- Neurodevelopmental Disorders
- Metabolic Disorders
- Pediatric Health
Background:
- Autism Spectrum Disorder (ASD) is a neurodevelopmental condition impacting social interaction and communication.
- While often idiopathic, ASD is associated with medical conditions in 10% of cases.
- Metabolic disorders are an uncommon but reported comorbidity with autism.
Purpose of the Study:
- To report a case of autism in a child diagnosed with propionic acidemia (PA).
- To highlight the importance of early autism diagnosis in children with metabolic disorders.
Main Methods:
- Case report of a 7-year-old girl.
- Clinical observation and diagnosis of autism and propionic acidemia.
Main Results:
- Autism was identified in a 7-year-old girl with propionic acidemia.
- Propionic acidemia is an organic aciduria linked to propionyl-CoA carboxylase deficiency, causing metabolic acidosis and hyperammonemia.
Conclusions:
- Autism can co-occur with metabolic disorders like propionic acidemia.
- Early identification of autistic features in children with metabolic disorders is crucial for accessing necessary behavioral services.
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