Related Experiment Video

Updated: Mar 28, 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

815

Prevalence of Creatine Deficiency Syndromes in Children With Nonsyndromic Autism

Andreas Schulze1, Margaret Bauman2, Anne Chun-Hui Tsai3

  • 1Genetics and Genome Biology, Peter Gilgan Center for Research and Learning, Toronto, Ontario, Canada; Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, Ontario, Canada; Department of Paediatrics, University of Toronto, Ontario, Canada; andreas.schulze@sickkids.ca.

Pediatrics
|December 20, 2015
PubMed

Insights

This study found a very low prevalence of creatine deficiency syndromes (CDS) in children with autism spectrum disorder (ASD). Creatine metabolites in urine did not significantly differ between children with ASD and healthy controls.

Area of Science:

  • Neurobiology
  • Metabolic Disorders
  • Developmental Pediatrics

Background:

  • Creatine deficiency syndromes (CDS) are potentially treatable conditions that may influence autism neurobiology.
  • Investigating the prevalence of CDS in children with autism spectrum disorder (ASD) is crucial for understanding potential therapeutic targets.

Purpose of the Study:

  • To determine the prevalence of creatine deficiency syndromes (CDS) in a cohort of children diagnosed with autism spectrum disorder (ASD).

Main Methods:

  • A prospective multicenter study involving 443 children with ASD.
  • Urine and plasma creatine metabolite analysis using liquid chromatography-tandem mass spectrometry and high-performance liquid chromatography.
  • Genetic testing for GAMT, GATM, and SLC6A8 genes and in vivo brain proton magnetic resonance spectroscopy.

Main Results:

  • Zero cases of CDS were identified in 443 children with ASD, yielding a prevalence of <7 in 1000 (95% confidence interval: 0-0.0068).
  • No significant differences in urinary creatine metabolites were observed between the ASD group and 128 healthy controls.

Conclusions:

  • The prevalence of CDS in children with non-syndromic ASD is very low.
  • No clear association was found between creatine metabolites and autism in this study population.
  • Higher prevalence of CDS may be expected in children with ASD exhibiting severe developmental delay, seizures, or movement disorders.
Abstract

More Related Videos

Video Imaging and Spatiotemporal Maps to Analyze Gastrointestinal Motility in Mice07:41

Video Imaging and Spatiotemporal Maps to Analyze Gastrointestinal Motility in Mice

Published on: February 3, 2016

14.9K
An Electrophysiology Protocol to Measure Reward Anticipation and Processing in Children05:04

An Electrophysiology Protocol to Measure Reward Anticipation and Processing in Children

Published on: October 4, 2018

7.4K

Related Concept Videos

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.
1.7K
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...
4.6K
Attention-Deficit/Hyperactivity Disorder01:30

Attention-Deficit/Hyperactivity Disorder

Attention-deficit/hyperactivity disorder (ADHD) is a neurodevelopmental disorder characterized by persistent inattention, hyperactivity, and impulsivity. It affects approximately 5-8% of children globally, with around 60-70% of cases persisting into adulthood. ADHD has significant implications for educational attainment, social interactions, and occupational success.
Diagnostic Criteria and Symptoms
To diagnose ADHD, symptoms must manifest before age 12 and be evident across multiple settings....
1.3K
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...
1.0K
Disorders of the Skeletal Muscle01:28

Disorders of the Skeletal Muscle

The clinical conditions affecting the skeletal muscle tissue are broadly categorized as musculoskeletal and neuromuscular disorders.
Musculoskeletal disorders
Musculoskeletal disorders involve injuries and conditions affecting the skeletal muscles and associated connective tissues. These disorders can arise from acute biomechanical stresses or chronic overuse and can occur across different age groups. Common injuries include sprains, fractures, and muscular strains, often resulting from...
2.3K
Drug Dosing in Renal Diseases: Measurement of Serum Creatinine Concentration and Clearance01:25

Drug Dosing in Renal Diseases: Measurement of Serum Creatinine Concentration and Clearance

In healthy individuals, serum creatinine levels remain stable due to a balance between its constant production—primarily from muscle metabolism—and renal excretion. Creatinine is freely filtered by the glomeruli, making it a valuable marker for estimating renal function. When the glomerular filtration rate (GFR) decreases, the kidneys can only eliminate less creatinine, causing serum levels to rise.Serum creatinine concentration is widely used to estimate creatinine clearance...
340