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J Child Neurol. 2008 Mar;23(3):307-14. Epub 2007 Dec 13.

Autism and metabolic diseases.

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Department of Neurosciences, Pediatric Neurology Unit, Tor Vergata University of Rome, Via di Tor Vergata 135, Rome, Italy.


Autism is an etiologic heterogeneous entity caused by many different diseases occurring in the central nervous system at an early stage in life. Several metabolic defects have been associated with autistic symptoms with a rate higher than that found in the general population. Inborn errors of metabolism can probably account for less than 5% of individuals. Selective metabolic testing should be done in the presence of suggestive clinical findings, including lethargy, cyclic vomiting, early seizures, dysmorphic features, and mental retardation. In some patients, early diagnosis of the metabolic disorders and proper therapeutic interventions may significantly improve the long-term cognitive and behavioral outcome.

[Indexed for MEDLINE]

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