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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
PubMed

Insights

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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