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.

Highlights

  • Introduction and hypothesisUnderstanding the biochemical basis of a rare genetic disorder sometimes sheds light on the processes underlying a more common disease

  • We believe there are compelling reasons to think that brain deficiency of carnitine and perhaps other micronutrients such as essential polyunsaturated fatty acids (PUFA) can cause autism with an extreme male bias, and that 10–20% of cases of autism could be prevented by changes in infant nutrition

  • We posit that NoMeND autism patients suffer carnitine deficiency in the mitochondria in the brain, perhaps in glia or neurons including possibly at the synapse. (Brain deficiency of other micronutrients may contribute, as discussed below.) We hypothesize that this brain carnitine deficiency disturbs neurodevelopment, perhaps neurogenesis [9] or synaptic development [10]

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Summary

Introduction

Introduction and hypothesisUnderstanding the biochemical basis of a rare genetic disorder sometimes sheds light on the processes underlying a more common disease. We believe there are compelling reasons to think that brain deficiency of carnitine and perhaps other micronutrients such as essential polyunsaturated fatty acids (PUFA) can cause autism with an extreme male bias, and that 10–20% of cases of autism could be prevented by changes in infant nutrition. Non-Mendelian, non-dysmorphic (NoMeND) autism and the brain carnitine deficiency hypothesis

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Conclusion

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