Title : Improvement of regressive autism symptoms in a child with TMLHE deficiency following carnitine supplementation.

Pub. Date : 2015 Sep

PMID : 25943046






1 Functional Relationships(s)
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1 A 4-year-old male with autism and two episodes of neurodevelopmental regression was identified to have a mutation in the TMLHE gene, which encodes the first enzyme in the carnitine biosynthesis pathway, and concurrent carnitine deficiency. Carnitine trimethyllysine hydroxylase, epsilon Homo sapiens