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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...
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...
Electron Transport Chain: Complex I and II01:46

Electron Transport Chain: Complex I and II

The mitochondrial electron transport chain (ETC) is the main energy generation system in the eukaryotic cells. However, mitochondria also produce cytotoxic reactive oxygen species (ROS) due to the large electron flow during oxidative phosphorylation. While Complex I is one of the primary sources of superoxide radicals, ROS production by Complex II is uncommon and may only be observed in cancer cells with mutated complexes.
ROS generation is regulated and maintained at moderate levels necessary...
Overview of Carbohydrate Metabolism01:19

Overview of Carbohydrate Metabolism

Carbohydrate metabolism is a fundamental biochemical process that ensures a constant supply of energy to living cells. The most important carbohydrate is glucose, which can be broken down via glycolysis to enter into the Krebs cycle and eventually lead to the production of ATP through oxidative phosphorylation.
Glucose transport into cells is facilitated by a family of transport proteins called GLUT (Glucose Transporters). GLUT4 is the primary glucose transporter for insulin-stimulated glucose...
Bioactivation and Tissue Toxicity01:25

Bioactivation and Tissue Toxicity

Bioactivation is a metabolic process that transforms less reactive substances into highly reactive metabolites, initiating tissue toxicity. This transformation can lead to various toxic effects, including carcinogenesis and teratogenesis. Reactive metabolites are classified into two main types: electrophiles and free radicals.Electrophiles are electron-deficient species and are produced primarily by the enzyme cytochrome P-450 during the metabolism of compounds containing carbon, nitrogen, or...
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.

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Updated: May 29, 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 cytopathy.

Mehmet Emin Ceylan1, Ayse Fulya Maner, Ahmet Turkcan

  • 1Bakirkoy Research and Training Hospital for Psychiatry, Neurology and Neurosurgery, Istanbul, Turkey.

The Open Neuroimaging Journal
|September 6, 2011
PubMed
Summary

Autism is a complex neurodevelopmental disorder with various contributing factors. Research is increasingly focusing on genetic and cellular causes due to limited evidence for environmental influences.

Keywords:
Autismgeneticsmetabolic cytopathy.

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Area of Science:

  • Neuroscience
  • Genetics
  • Developmental Biology

Background:

  • Autism Spectrum Disorder (ASD) is a complex neurodevelopmental condition with a multifactorial etiology.
  • Genetic disorders like fragile X syndrome, tuberous sclerosis, neurofibromatosis, and phenylketonuria are often associated with ASD.
  • Limited evidence for environmental, neuroanatomical, and biochemical factors has redirected research focus.

Purpose of the Study:

  • To review the current understanding of autism etiology.
  • To highlight the shift towards genetic and cytological research in autism.

Main Methods:

  • Literature review of studies on autism etiology.
  • Analysis of the etiological factors implicated in autism spectrum disorder.

Main Results:

  • Genetic factors play a significant role in the etiology of autism spectrum disorder.
  • Associated genetic disorders are common in individuals with autism.
  • Environmental, neuroanatomical, and biochemical factors have less established etiological roles.

Conclusions:

  • The etiology of autism is multifactorial, with a strong genetic component.
  • Future research should continue to explore the genetic and cytological underpinnings of autism spectrum disorder.