caa a22 4500 467933170 CHVBK 20180406152949.0 cr unu---uuuuu 170328e20060401xx s 000 0 eng 10.1007/s10545-006-0269-0 doi (NATIONALLICENCE)springer-10.1007/s10545-006-0269-0 de Koning T. Department of Metabolic Diseases, University Medical Centre Utrecht, KC 03.063.0, PO Box 85090, 3508 AB, Utrecht, The Netherlands aut Treatment with amino acids in serine deficiency disorders [Elektronische Daten] [T. de Koning] Summary: Serine deficiency disorders are rare defects in the biosynthesis of the amino acid L-serine. At present two disorders have been reported: 3-phosphoglycerate dehydrogenase deficiency and 3-phosphoserine phosphatase deficiency. These enzyme defects lead to severe neurological symptoms such as congenital microcephaly and severe psychomotor retardation and in addition in patients with 3-phosphoglycerate dehydrogenase deficiency to intractable seizures. These symptoms respond to a variable degree to treatment with L-serine, sometimes combined with glycine. In this paper the current practice of amino acid treatment with L-serine and glycine in serine deficiency is reviewed. SSIEM and Springer, 2006 Journal of Inherited Metabolic Disease Kluwer Academic Publishers 29/2-3(2006-04-01), 347-351 0141-8955 29:2-3<347 2006 29 10545 https://doi.org/10.1007/s10545-006-0269-0 text/html Onlinezugriff via DOI 1 research-article jats NATIONALLICENCE 856 40 https://doi.org/10.1007/s10545-006-0269-0 text/html Onlinezugriff via DOI NATIONALLICENCE 100 1- de Koning T. Department of Metabolic Diseases, University Medical Centre Utrecht, KC 03.063.0, PO Box 85090, 3508 AB, Utrecht, The Netherlands aut NATIONALLICENCE 773 0- Journal of Inherited Metabolic Disease Kluwer Academic Publishers 29/2-3(2006-04-01), 347-351 0141-8955 29:2-3<347 2006 29 10545 Metadata rights reserved Springer special CC-BY-NC licence nationallicence BK010053 XK010053 XK010000 NATIONALLICENCE NATIONALLICENCE NL-springer