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Improvement of regressive autism symptoms in a child with TMLHE deficiency following carnitine supplementation
Author(s) -
Ziats Mark N.,
Comeaux Mathew S.,
Yang Yaping,
Scaglia Fernando,
Elsea Sarah H.,
Sun Qin,
Beaudet Arthur L.,
Schaaf Christian P.
Publication year - 2015
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.37144
Subject(s) - autism , carnitine , autism spectrum disorder , developmental disorder , medicine , pediatrics , psychology , psychiatry
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 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. Following carnitine supplementation, the patient's regression ended, and the boy started gaining developmental milestones. This case report suggests that deficits in carnitine biosynthesis may be responsible for some cases of regression in individuals with ASD, and that testing for the respective biochemical pathway should be considered. Furthermore, this case suggests that carnitine supplementation may be useful in treating (and potentially preventing) regressive episodes in patients with carnitine deficiency. Further work to better define the role of disorders of carnitine biosynthesis in autism spectrum disorder is warranted. © 2015 Wiley Periodicals, Inc.