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First Case Report of Primary Carnitine Deficiency Manifested as Intellectual Disability and Autism Spectrum Disorder
José Guevara-Campos1, Lucía González-Guevara2, José Guevara-González3
1"Felipe Guevara Rojas" Hospital, Pediatrics Service, University of Oriente, El Tigre-Anzoátegui 6034, Venezuela. joguevara90@hotmail.com.
Systemic primary carnitine deficiency (PCD) can present with autism spectrum disorder and intellectual disability, mimicking other metabolic disorders. Early diagnosis and carnitine supplementation are crucial for improved outcomes in this rare genetic condition.
Area of Science:
- Genetics
- Metabolic Disorders
- Neurodevelopmental Disorders
Background:
- Systemic primary carnitine deficiency (PCD) is a genetic disorder affecting carnitine transporter activity (OCTN2).
- PCD typically presents in early life with metabolic decompensation or in childhood with myopathy.
- Atypical presentations, such as autism spectrum disorder (ASD) with intellectual disability (ID), are rarely reported.
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