Autism and Metabolic Diseases

@article{Manzi2008AutismAM,
  title={Autism and Metabolic Diseases},
  author={Barbara Manzi and Anna Livia Loizzo and Grazia Giana and Paolo Curatolo},
  journal={Journal of Child Neurology},
  year={2008},
  volume={23},
  pages={307 - 314}
}
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… 
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Is Metabolic Screening Necessary in Children with Autism Spectrum Disorder? A Mini Review
TLDR
Detailed cost–benefit analyses are needed to investigate the benefit of a targeted screening of treatable metabolic errors compared with the total financial burden of autism.
Clinical and biochemical footprints of inherited metabolic diseases. III. Psychiatric presentations.
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The list of metabolic disorders known to be associated with various psychiatric manifestations and found more than 100 relevant IEMs is reviewed and updated.
Inherited metabolic disorders in Turkish patients with autism spectrum disorders
TLDR
The aim of this study was to explore the benefits of systematic screening for IMD among Turkish patients with ASDs and diagnosed nine patients with autism with an increased prevalence of IMD.
Autism spectrum disorders and inborn errors of metabolism: an update.
TLDR
The risk of autistic features is increased in children with inborn errors of metabolism, especially in the presence of cognitive and behavioral deficits, and it is proposed that affected children should be screened for autism.
Neurodegenerative disorders and metabolic disease
  • G. Pierre
  • Medicine
    Archives of Disease in Childhood
  • 2013
TLDR
This review aims to give a practical approach to the investigation and diagnosis of neurometabolic disease from the neonatal period to late childhood while prioritising disorders where there are therapeutic options.
Should Metabolic Diseases Be Systematically Screened in Nonsyndromic Autism Spectrum Disorders?
TLDR
These data provide the largest ever reported cohort of ASD patients for whom a systematic metabolic workup has been performed and suggest that such a routine metabolic screening does not contribute to the causative diagnosis of nonsyndromic ASD.
Autism and Medical Comorbidities
TLDR
Inborn errors of metabolism should not typically be considered a comorbidity in ASD, but should not be neglected as a possible etiology of ASD in some very rare situations of syndromic autism with associated features.
Neurometabolic disorders and dysfunction in autism spectrum disorders
TLDR
A number of known neurometabolic disorders identified as having an autistic phenotype are reviewed as well as a theory regarding an increased vulnerability to oxidative stress, by which various environmental toxins produce metabolic alterations that impair normal cellular function.
Autismo e epilepsia: modelos e mecanismos
Autism is associated with epilepsy in early childhood in almost 30% of children with either disorder, with evidence suggesting the same neurophysiopathology. The common mechanism in both diseases is…
Inborn error metabolic screening in individuals with nonsyndromic autism spectrum disorders
TLDR
To perform metabolic testing on 406 patients with nonsyndromic autism spectrum disorders (ASD) and review the hospital's clinical database of 8500 patients who had undergone metabolic testing to be identified for inborn errors of metabolism (IEM), the characteristics of those with IEM and nonsyNDromic ASD were described.
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