Developmental Malformations
Fetal anticonvulsant syndrome
Sep. 08, 2023
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Toll Free (U.S. + Canada): 800-452-2400
US Number: +1-619-640-4660
Support: service@medlink.com
Editor: editor@medlink.com
ISSN: 2831-9125
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Mutations inactivating metabolite repair enzymes lead to various diseases. An example is L-2-hydroxyglutaric aciduria in which mutations in L-2-hydroxyglutarate dehydrogenase prevent the conversion of toxic L-2 hydroxy-glutarate to alpha-ketoglutarate, ultimately resulting in leukoencephalopathy. (Source: Veiga-da-Cunha M, Van Schaftingen E, Bommer GT. Inborn errors of metabolite repair. J Inherit Metab Dis 2020;43[1]:14-24. Creative Commons Attribution License.)