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Related Concept Videos

Inborn Errors of Metabolism01:20

Inborn Errors of Metabolism

Phenylketonuria (PKU) is a protein metabolism disorder characterized by high blood levels of the amino acid phenylalanine. This results from a mutation in the gene responsible for phenylalanine hydroxylase, an enzyme that converts phenylalanine into tyrosine. When this enzyme is deficient, phenylalanine builds up in the blood, leading to symptoms such as vomiting, rashes, seizures, growth deficiency, and severe mental retardation. An early diagnosis and a diet restricting phenylalanine intake...
Autism Spectrum Disorder01:19

Autism Spectrum Disorder

Autism spectrum disorder (ASD) is a neurodevelopmental condition marked by persistent deficits in social communication and interaction alongside restrictive and repetitive behaviors or interests. ASD is sometimes accompanied by intellectual impairment.
These core symptoms manifest differently among individuals, ranging from mild to severe. The disorder's complexity extends beyond its clinical presentation, encompassing a diverse range of biological, cognitive, and sociocultural influences.
Autoimmune Disorders01:29

Autoimmune Disorders

Autoimmune diseases are a group of disorders in which the body's immune system mistakenly attacks its own cells, tissues, and organs. This results from an overactive immune response against substances and tissues normally present in the body. Let's delve into the concept and mechanism of autoimmune diseases from an immune system point of view, explore different causes and examples of such diseases, and discuss potential solutions.
Concept and Mechanism of Autoimmune Diseases
The immune system...
Overview of Protein Metabolism01:21

Overview of Protein Metabolism

Proteins are broken down into amino acids during digestion. Unlike fats and carbohydrates, which are stored for later use, proteins are not. Instead, amino acids are either used to produce ATP through oxidation or contribute to the creation of new proteins for the growth and repair of the body. Any surplus amino acids from the diet are converted into glucose or triglycerides rather than excreted.
Amino acids play various roles in the body once they are absorbed into cells. They are restructured...
Type I Diabetes I: Introduction01:12

Type I Diabetes I: Introduction

Type 1 diabetes mellitus is a chronic metabolic disorder characterized by an absolute deficiency of insulin resulting from the autoimmune destruction of pancreatic β-cells. Although it can occur at any age, it is most commonly diagnosed in childhood, adolescence, or early adulthood. The loss of insulin production impairs cellular glucose uptake, resulting in persistent hyperglycemia and necessitating lifelong insulin therapy.Autoimmune Destruction of β-CellsThe hallmark of type 1 diabetes is an...
Pathophysiology of Diabetes01:20

Pathophysiology of Diabetes

Diabetes mellitus is a chronic metabolic disorder characterized by hyperglycemia. The four categories of diabetes are type 1 diabetes, type 2 diabetes, other specific types of diabetes, and gestational diabetes.
Type 1 diabetes is characterized by autoimmune-mediated destruction of pancreatic β cells, with environmental factors potentially triggering this process in genetically susceptible individuals. Despite many not having a family history, certain genes increase susceptibility, suggesting a...

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Related Experiment Video

Updated: Jul 9, 2026

Dynamic Clamp Methods to Investigate Impaired Neuronal Excitability Associated with Autism
08:44

Dynamic Clamp Methods to Investigate Impaired Neuronal Excitability Associated with Autism

Published on: October 17, 2025

Autism and metabolic diseases.

Barbara Manzi1, Anna Livia Loizzo, Grazia Giana

  • 1Department of Neurosciences, Pediatric Neurology Unit, Tor Vergata University of Rome, Via di Tor Vergata 135, Rome, Italy.

Journal of Child Neurology
|December 15, 2007
PubMed
Summary

Autism spectrum disorder (ASD) can stem from various central nervous system diseases. Identifying specific metabolic defects through testing in children with suggestive symptoms may improve long-term outcomes.

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Strategies for Assessing Autistic-Like Behaviors in Mice

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Dynamic Clamp Methods to Investigate Impaired Neuronal Excitability Associated with Autism
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Strategies for Assessing Autistic-Like Behaviors in Mice

Published on: September 20, 2024

Area of Science:

  • Neuroscience
  • Metabolic Disorders
  • Developmental Pediatrics

Background:

  • Autism spectrum disorder (ASD) is a complex neurodevelopmental condition with diverse etiologies.
  • Metabolic defects are observed in individuals with ASD at a higher frequency than in the general population.

Purpose of the Study:

  • To review the association between metabolic disorders and autism spectrum disorder.
  • To highlight the importance of selective metabolic testing in specific pediatric populations.

Main Methods:

  • Literature review of studies investigating metabolic defects in autism.
  • Analysis of clinical indicators for metabolic testing in children with ASD.

Main Results:

  • Inborn errors of metabolism account for a small percentage (<5%) of ASD cases.
  • Clinical findings such as lethargy, cyclic vomiting, seizures, dysmorphic features, and intellectual disability suggest the need for metabolic evaluation.

Conclusions:

  • Early diagnosis of metabolic disorders in children with autism is crucial.
  • Timely therapeutic interventions can significantly enhance cognitive and behavioral outcomes in affected individuals.