ReviewBioEssays : news and reviews in molecular, cellular and developmental biology2017
Brain carnitine deficiency causes nonsyndromic autism with an extreme male bias: A hypothesis.
Review in BioEssays : news and reviews in molecular, cellular and developmental biology, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 28 papers, 1 of them a synthesis that pooled it.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
28 citing papers in PubMed, 1 synthesis or guideline pooled it, 47 citations in OpenAlex.
- Association Between Gut Microbiota and Autism Spectrum Disorder: A Systematic Review and Meta-Analysis.Frontiers in psychiatry · 2019Pooled it
- Linking Brain Morphometry to Psychometric Measures and Energy-Metabolic Biomarkers in Adults With Autism Spectrum Disorder.Autism research : official journal of the International Society for Autism Research · 2026Article
- Effects of chronic swimming exercise and cannabidiol on metabolic and i̇nflammatory gene expression in obese rats.BMC sports science, medicine & rehabilitation · 2026Article
- The X chromosome's influences on the human brain.Science advances · 2025Article
- X-Linked Autism Type 9 Caused by a Hemizygote Pathogenic Variant in theInternational medical case reports journal · 2025Article
- Revisiting the Role of Carnitine in Heart Disease Through the Lens of the Gut Microbiota.Nutrients · 2024Review
- Article
- Unraveling the metabolomic architecture of autism in a large Danish population-based cohort.BMC medicine · 2024Article
- Toxic mechanism of the Mongolian medicine "Hunqile-7" based on metabonomics and the metabolism of intestinal flora.Toxicology research · 2023Article
- Metabolomic biomarkers in autism: identification of complex dysregulations of cellular bioenergetics.Frontiers in psychiatry · 2023Article
- Treatment of Autism Spectrum Disorders by Mitochondrial-targeted Drug: Future of Neurological Diseases Therapeutics.Current neuropharmacology · 2023Review
- Gut Microbiota Ecology and Inferred Functions in Children With ASD Compared to Neurotypical Subjects.Frontiers in microbiology · 2022Article
- Integrative Functional Genomic Analysis in Multiplex Autism Families from Kazakhstan.Disease markers · 2022Article
- Origin of Sex-Biased Mental Disorders: An Evolutionary Perspective.Journal of molecular evolution · 2021Review
- Potential Role of L-Carnitine in Autism Spectrum Disorder.Journal of clinical medicine · 2021Review
- An mtDNA mutant mouse demonstrates that mitochondrial deficiency can result in autism endophenotypes.Proceedings of the National Academy of Sciences of the United States of America · 2021Article
- The Role of Lipidomics in Autism Spectrum Disorder.Molecular diagnosis & therapy · 2020Review
- Autistic feature as a presentation of Inborn Errors of Metabolism.Iranian journal of child neurology · 2020Review
- The neural stem cell/carnitine malnutrition hypothesis: new prospects for effective reduction of autism risk?The Journal of biological chemistry · 2019Review
- Effects of l-Carnitine in Patients with Autism Spectrum Disorders: Review of Clinical Studies.Molecules (Basel, Switzerland) · 2019Review
Corrections and comments
- Commented on by
Authors and funding
1 author at 1 institution in 1 country.
Funding
Abstract
Could 10-20% of autism be prevented? We hypothesize that nonsyndromic or "essential" autism involves extreme male bias in infants who are genetically normal, but they develop deficiency of carnitine and perhaps other nutrients in the brain causing autism that may be amenable to early reversal and prevention. That brain carnitine deficiency might cause autism is suggested by reports of severe carnitine deficiency in autism and by evidence that TMLHE deficiency - a defect in carnitine biosynthesis - is a risk factor for autism. A gene on the X chromosome (SLC6A14) likely escapes random X-inactivation (a mixed epigenetic and genetic regulation) and could limit carnitine transport across the blood-brain barrier in boys compared to girls. A mixed, common gene variant-environment hypothesis is proposed with diet, minor illnesses, microbiome, and drugs as possible risk modifiers. The hypothesis can be tested using animal models and by a trial of carnitine supplementation in siblings of probands. Perhaps the lack of any Recommended Dietary Allowance for carnitine in infants should be reviewed. Also see the video abstract here: https://youtu.be/BuRH_jSjX5Y.
Indexed as
Identifiers
What OpenQuestion holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.