Carnitine Supplementation in Soy-Based Formula-Fed Infants

Novák, Milan

doi:10.1159/000243303

Cited by 7 publications

(1 citation statement)

References 18 publications

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“…Synthesis of carnitine is clearly limited in 1 in 350 males who have TMLHE deficiency. In addition, it is known since at least 1981 that otherwise healthy infants given unsupplemented soy based formulas can develop symptomatic carnitine deficiency .…”

Section: Carnitine As a Conditionally Essential Nutrientmentioning

confidence: 99%

Brain carnitine deficiency causes nonsyndromic autism with an extreme male bias: A hypothesis

Beaudet

2017

BioEssays

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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.

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Section: Carnitine As a Conditionally Essential Nutrientmentioning

confidence: 99%