Article
CAD mutations and uridine-responsive epileptic encephalopathy.
Brain : a journal of neurology - 1 Feb 2017
Koch Johannes, Mayr Johannes A, Alhaddad Bader, Rauscher Christian, Bierau Jörgen, Kovacs-Nagy Reka, Coene Karlien L M, Bader Ingrid, Holzhacker Monika, Prokisch Holger, Venselaar Hanka, Wevers Ron A, Distelmaier Felix, Polster Tilman, Leiz Steffen, Betzler Cornelia, Strom Tim M, Sperl Wolfgang, Meitinger Thomas, Wortmann Saskia B, Haack Tobias B
Abstract excerpt
Unexplained global developmental delay and epilepsy in childhood pose a major socioeconomic burden. Progress in defining the molecular bases does not often translate into effective treatment. Notable exceptions include certain inborn errors of metabolism amenable to dietary intervention. CAD encodes a multifunctional enzyme involved in de novo pyrimidine biosynthesis. Alternatively, pyrimidines can be recycled...
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