Cerebral Folate Deficiency in Autism Spectrum Disorder

Definition and Prevalence

• Cerebral folate deficiency (CFD) is recognized as a metabolic condition associated with autism spectrum disorder (ASD) and represents an important treatable cause of ASD symptoms, particularly in children with neurological deficits, according to clinical genetics guidelines from the American College of Medical Genetics 1, 2

Clinical Presentation and Diagnosis

• CFD should be suspected in children with ASD who present with developmental regression outside of typical ASD speech loss, seizures, or hypotonia/dystonia, as these symptoms may indicate a high prevalence of this metabolic abnormality 3

Clinical Considerations and Pitfalls

• The American College of Medical Genetics considers CFD a "low incidence yet high impact" metabolic disorder in ASD and emphasizes maintaining a high index of suspicion for metabolic disorders like CFD, although they do not recommend routine metabolic testing in all ASD cases 2, 4