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Abstract

Summary  Serine deficiency disorders comprise a relatively new group of neurometabolic disorders and are caused by defects in the biosynthesis of the amino acid L-serine. Patients suffer from severe neurological symptoms such as microcephaly, psychomotor retardation and seizures, symptoms that underscore the roles of the L-serine pathway in brain development and function. In contrast to many neurometabolic disorders, serine deficiency disorders are treatable disorders, albeit that prompt recognition and treatment are of outmost importance. In this chapter, I will discuss the cellular functions of the L-serine pathway, the clinical and biochemical findings as well as the genetic defects associated with serine deficiency.

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