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Autism in patients with propionic acidemia.

Peter Witters¹, Eric Debbold², Kea Crivelly²

¹Department of Pediatrics, Metabolic Center, University Hospitals Leuven, Leuven, Belgium.

Molecular Genetics and Metabolism

|November 10, 2016

Summary

Propionic acidemia, a metabolic disorder, is linked to a higher risk of autistic features. Researchers found that chronic metabolic imbalances may contribute to these features, suggesting screening for Autism Spectrum Disorder in affected patients.

Keywords:

ASD Autistic Dietary therapy Intellectual disability Lactic acid Leucine Mitochondria Propionic acid Valine

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Area of Science:

Biochemistry
Metabolic Disorders
Neurodevelopmental Disorders

Background:

Inborn errors of metabolism are implicated in neurodevelopmental disorders.
Animal models suggest propionic acid can induce autistic behaviors.
Few human cases link propionic acidemia to autistic features.

Purpose of the Study:

To investigate the prevalence of autistic features in patients with propionic acidemia.
To explore potential metabolic factors associated with autistic features in this cohort.
To recommend screening for Autism Spectrum Disorder in propionic acidemia patients.

Main Methods:

Retrospective analysis of twelve consecutively diagnosed propionic acidemia patients.
Regular clinical, dietary, and laboratory monitoring.
Psychological evaluations using DSM-IV/DSM-5 criteria for Autism Spectrum Disorder diagnosis.

Main Results:

Eight out of twelve patients exhibited autistic features.
Five patients had chronically decreased valine levels or altered valine/leucine ratios.
Six patients experienced recurrent lactic acid elevations.
Five patients were diagnosed with Autism Spectrum Disorder; four had PCCB pathogenic variants.

Conclusions:

Chronic suboptimal intracellular metabolic balance may increase the risk of autistic features in propionic acidemia.
Autism Spectrum Disorder should be screened for in patients diagnosed with propionic acidemia.
Further research into metabolic contributions to neurodevelopmental disorders is warranted.