Carnitine Deficiency Linked to Mild Form of Autism

Autism and Carnitine DeficiencyA new research paper proposed a link may exist between a mild form of autism and a deficiency of L-Carnitine. Revolutionary implications in the prevention of autism would be triggered if this hypothesis were confirmed with additional clinical studies.  Genetic factors observed in autistic patients as well as results from animal studies lead researchers to infer low brain levels of L-Carnitine may result in a mild form of autism predominately affecting males.

Prior research has found 1 in 350 males cannot produce L-Carnitine because they have an inactive form of the trimethyllysine hydroxylase, epsilon gene (TMLHE).  Approximately 3% of these males with the inactive TMLHE gene develop autism.  Additionally TMLHE gene variation only accounts for 1% of autism case.  Hence, researchers have concluded that a brain L-Carnitine deficiency may account for a larger percentage of autism cases.

Symptoms of autism often begin at between 6 and 18 months of age.  Researchers believe the delayed onset of autism symptoms occur because L-Carnitine is delivered across the placenta and most infants are born with adequate L-Carnitine stores.  Also, infants formulas, cow’s milk and of course breast milk all contain abundant amounts of L-Carnitine providing adequate protection for the infant from an L-Carnitine deficiency during the early months of life.  The first foods introduced to an infant occur between ages 4 and 8 months and contain little or no L-Carnitine since meats are introduced later in the infant’s development.  The reduction in L-Carnitine is believed to lead to brain L-Carnitine deficiency and to autism.

Researchers are calling for more studies to confirm these findings.

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