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… 

Tables from this paper

Is Metabolic Screening Necessary in Children with Autism Spectrum Disorder? A Mini Review

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.

Inherited metabolic disorders in Turkish patients with autism spectrum disorders

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.

Neurodegenerative disorders and metabolic disease

  • G. Pierre
  • Medicine, Psychology
    Archives of Disease in Childhood
  • 2013
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?

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

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

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

The heterogeneity of clinical symptoms in children with autism spectrum disorder and epilepsy highlights the importance of a comprehensive assessment that includes investigation of underlying biological etiologies through neuroimaging, inflammatory, genetic and neurochemistry studies.

Inborn error metabolic screening in individuals with nonsyndromic autism spectrum disorders

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.
...

References

SHOWING 1-10 OF 91 REFERENCES

Subgroups in autism: are there behavioural phenotypes typical of underlying medical conditions?

  • C. Gillberg
  • Medicine, Psychology
    Journal of intellectual disability research : JIDR
  • 1992
It was concluded that, even within a group of cases fitting currently accepted criteria for autism, there is considerable variation in symptom profile depending on the exact type of associated medical condition.

Should Autistic Children Be Evaluated for Mitochondrial Disorders?

Clinicians should be careful in diagnosing a mitochondrial disorder in an autistic child because it has important implications for accurate genetic counseling, prognosis, and therapy.

Autism and genetic disorders.

Two hypotheses are supported: autism is a behaviorally defined phenotype which arises from diverse causes of central nervous system (CNS) damage, and the autistic phenotype represents only one point along a continuum of psychological dysfunction resulting from CNS damage.

Metabolic Approaches to the Treatment of Autism Spectrum Disorders

  • T. Page
  • Medicine, Biology
    Journal of autism and developmental disorders
  • 2000
This review evaluates evidence for metabolic etiologies in autism spectrum disorders, as well as for the efficacy of dietary and vitamin treatments, and the relationship between gastrointestinal abnormalities and autistic spectrum disorders is considered.

Specific Genetic Disorders and Autism: Clinical Contribution Towards their Identification

The concept of “syndromal autism”—autism associated with other clinical signs—should be promoted because it may help to distinguish patients who warrant a multidisciplinary approach and further investigation.

Autism in tuberous sclerosis.

A clinicopathological study of autism.

A neuropathological study of autism was established and brain tissue examined from six mentally handicapped subjects with autism, finding the likely involvement of the cerebral cortex in autism.

The UCLA-University of Utah epidemiologic survey of autism: the etiologic role of rare diseases.

Twelve rare diseases known to cause CNS pathology were found in 26 of 233 autistic probands identified during a recent epidemiologic survey of Utah, providing the most compelling evidence to date to support the hypothesis that different diseases producing different types of CNS pathology can play an etiologic role in autism.

Mitochondrial dysfunction in autism spectrum disorders: a population-based study.

Five of 11 patients studied were classified with definite mitochondrial respiratory chain disorder, suggesting that this might be one of the most common disorders associated with autism and warranting further investigation.

Detection of phenylketonuria in autistic and psychotic children.

Three children with pervasive developmental disturbance showed abnormalities in standard urinary amino acid detection testing methods, leading to the diagnosis of phenylketonuria, and were treated with low-phenylalanine diets.
...