Autism and Metabolism: Changes From Birth to Age Five

Author: University of California - San Diego
Published: 10 May 2024 - Updated: 4 Nov 2026
Publication Details: Peer-Reviewed | Findings

Table of Contents:
Synopsis - Definition - Overview - FAQs - Insights, Updates - Related Content

Synopsis

This research from the University of California San Diego School of Medicine, a peer reviewed study led by Dr. Robert Naviaux, compared the metabolism of newborns with that of 5-year-old children, some of whom were later diagnosed with autism spectrum disorder. Of 50 biochemical pathways studied, just 14 accounted for 80 percent of the metabolic differences linked to autism, and the most changed pathways were related to the cell danger response, the body's reaction to injury or stress. The findings support the idea that autism develops through an interaction of genes and environment over the first years of life, and they could guide earlier detection and new treatments that interest parents, clinicians and autistic people.*

At a Glance

• 1 - Autism cannot be detected from metabolism at birth in most cases.
• 2 - The cell danger response is regulated mainly by ATP, the body's chemical energy currency.
• 3 - Suramin, a drug used for African sleeping sickness, was tested in an early 2017 clinical trial.
• 4 - Naviaux suggests autism occurs when the safeguards that switch off the cell danger response fail to develop normally.

Topic Definition

Cell Danger Response

The cell danger response is a natural, protective reaction that cells mount when they sense threats such as infection, injury, toxins or metabolic stress. Cells change how they use energy, release signaling molecules such as ATP outside the cell and shift into a defensive state, and once the threat passes the response is meant to switch off so that normal growth and healing can resume.

Overview

Researchers at the University of California San Diego School of Medicine have shed new light on the changes in metabolism that occur between birth and the presentation of autism spectrum disorder (ASD) later in childhood. The researchers discovered that a small number of biochemical pathways are responsible for the majority of these changes, which could help inform new early detection and prevention strategies for autism.

"At birth, the physical appearance and behavior of a child who will develop autism over the next few years are indistinguishable from that of a neurotypical child. Indeed, in most cases the fate of the child with regard to autism is not set at birth," said Robert Naviaux, M.D., Ph.D., professor in the Departments of Medicine, Pediatrics and Pathology at UC San Diego School of Medicine. "We're starting to learn about the governing dynamics that regulate the transition from risk to the actual appearance of the first symptoms of ASD. Early diagnosis opens the possibility of early intervention and optimal outcomes."

ASD is a developmental disorder characterized by difficulties in socializing and communication, as well as repetitive and/or restrictive behaviors. For the majority of people with ASD, the condition is a significant disability, with only 10-20 percent of children diagnosed before 5 years of age able to live independently as adults.

While autism is known to have strong genetic risk factors, there are also environmental risk factors that play a role in the development and severity of ASD. Naviaux and other researchers are discovering that the development of autism is governed by the real-time interaction of these varied factors. By studying the developmental biology of metabolism and how it differs in autism, new insights are emerging in ASD and other complex developmental disorders.

"Behavior and metabolism are linked - you cannot separate them," added Naviaux.

To learn more about the early metabolic changes that occur in children with autism, researchers studied two cohorts of children. One cohort consisted of newborn children, in whom autism can't be detected. The second cohort consisted of 5-year-old children, some of whom had been diagnosed with autism.

When comparing the metabolic profiles of children in the cohort who were eventually diagnosed with autism to those who developed neurotypically, they found striking differences. Of the 50 different biochemical pathways the researchers investigated, just 14 were responsible for 80 percent of the metabolic impact of autism.

The pathways that were most changed are related to the cell danger response, a natural and universal cellular reaction to injury or metabolic stress. The body has biochemical safeguards in place that can shut down the cell danger response once the threat has passed, and Naviaux hypothesizes that autism occurs when these safeguards fail to develop normally. The result is heightened sensitivity to environmental stimuli, and this effect contributes to sensory sensitivities and other symptoms associated with autism.

"Metabolism is the language that the brain, gut and immune system use to communicate, and autism occurs when the communication between these systems is changed," added Naviaux.

The cell danger response is primarily regulated by adenosine triphosphate (ATP) the body's chemical energy currency. While these ATP-signaling pathways do not develop normally in autism, they may be partially restorable with existing pharmaceutical drugs. In 2017, Naviaux and his team completed early clinical testing for suramin, the only drug approved in humans that can target ATP signaling and which is normally used to treat African sleeping sickness.

Now, the researchers hope that by revealing the specific ATP-related pathways that are altered in autism, their work will help scientists develop more drugs that target these pathways to manage the symptoms of ASD.

"Suramin is just one drug that targets the cell danger response," he said. "Now that we're closely interrogating how metabolism changes in ASD, we could be at the beginning of a drug renaissance that will create new options for treatment that never existed before."

Authors

Co-authors on the study include: Sai Sachin Lingampelly, Jane C. Naviaux, Jonathan M. Monk, Kefeng Li and Lin Wang at UC San Diego School of Medicine and Luke S. Heuer, Lori Haapanen, Chelsea A. Kelland and Judy Van de Water at University of California Davis. This work was funded, in part, by Autism Speaks (grant 7274), the National Center for Research Resources (grant UL1TR001442), and through various philanthropic gifts.

COI Statement

Robert Naviaux is a scientific advisory board member for The Autism Community in Action (TACA), the Open Medicine Foundation (OMF), Pannex Therapeutics, Yuva Biosciences, Kuzani, and PaxMedica.

Frequently Asked Questions

NOTE: Researched FAQs by Disabled World (DW)

What is metabolomics?

Metabolomics is the large-scale study of small molecules, called metabolites, in blood, urine or tissue. It gives a snapshot of the body's chemistry at a point in time.

At what age is autism usually diagnosed?

Autism can often be reliably diagnosed by age 2, but many children are diagnosed later, at age 4 or older, and some people are not diagnosed until adulthood.

Is there a blood test for autism?

No blood test is approved to diagnose autism. Diagnosis is based on developmental history and observation of behavior by trained professionals.

What is suramin?

Suramin is an old drug used to treat African sleeping sickness. It blocks some ATP signaling, which is why researchers have tested it in small autism studies, but it is not approved for autism.

Do environmental factors cause autism?

Autism has strong genetic roots, and some prenatal factors such as certain infections or parental age may add to risk. Vaccines do not cause autism.

Why does early diagnosis of autism matter?

Early diagnosis allows earlier access to speech, behavioral and developmental support, which can help children build communication and daily living skills.

What is ATP?

Adenosine triphosphate, or ATP, is the molecule cells use to store and transfer energy. Outside cells it also acts as a signal of stress or damage.

Are metabolic treatments for autism available now?

No metabolic treatment is approved for autism. Any experimental therapy should only be tried within a properly supervised clinical trial.

Insights, Analysis, and Developments

Editorial Note: The idea that autism is fixed at birth is giving way to a picture in which genes, environment and body chemistry interact through early childhood, and this study adds detail to that picture by narrowing the metabolic changes to a small set of pathways. That focus could make it easier to develop screening tests and to test treatments aimed at specific targets. The research is still early, suramin is not an approved autism treatment, and many autistic people value support and acceptance over cure, so families should treat these findings as a promising research direction rather than a basis for current care decisions.*

Attribution/Source(s): This peer-reviewed publication was selected for publishing by the editors of Disabled World (DW) due to its relevance to the disability community. Originally issued as a press release by University of California - San Diego and published on 10 May 2024. Last updated on 4 Nov 2026. This content may have been edited for style, clarity, or brevity.

* Editorial additions by Ian C. Langtree.