We recently reported a deletion of exon 2 of the trimethyllysine hydroxylase epsilon
(TMLHE) gene in a proband with autism. TMLHE maps to the X chromosome and encodes …

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 …

Disorders of carnitine biosynthesis have recently been associated with neurodevelopmental
syndromes such as autism spectrum disorder (ASD). A 4‐year‐old male with autism and two …

Carnitine is needed for transfer of long-chain fatty acids across the inner mitochondrial
membrane for subsequent β-oxidation. Carnitine can be synthesized by the body and is also …

L-carnitine plays an important role in the functioning of the central nervous system, and
especially in the mitochondrial metabolism of fatty acids. Altered carnitine metabolism …

Carnitine is an amino acid derivative, which plays several important roles in human
physiology, in the central nervous system, and for mitochondrial metabolism, in particular …

l-Carnitine was proposed as a potential treatment for patients diagnosed with autism to
ameliorate the behavioral symptoms associated with the disease. Thirty children diagnosed …

The striking excess of affected males in autism spectrum disorders (ASD) suggests that
genes located on chromosome X contribute to the etiology of these disorders. To identify …

Primary carnitine deficiency is caused by defective OCTN2 carnitine transporters encoded
by the SLC22A5 gene. Lack of carnitine impairs fatty acid oxidation resulting in hypoketotic …

Previous research suggests potential mitochondrial dysfunction and changes in fatty acid
metabolism in a subgroup of individuals with autism spectrum disorder (ASD), indicated by …