title: Treatment with amino acids in serine deficiency disorders.
abstract: 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.
authors.affiliation: Department of Metabolic Diseases, University Medical Centre Utrecht, KC 03.063.0, PO Box 85090, 3508 AB, Utrecht, The Netherlands. t.dekoning@umcutrecht.nl
authors.forename: T J
authors.initials: TJ
authors.lastname: de Koning
mesh_terms: D000592:Amino Acid Metabolism, Inborn Errors / Q000378:metabolism / Q000628:therapy*; D000596:Amino Acids / Q000627:therapeutic use*; D000818:Animals; D020739:Brain Diseases, Metabolic, Inborn / Q000378:metabolism / Q000628:therapy*; D002490:Central Nervous System / Q000378:metabolism; D005998:Glycine / Q000627:therapeutic use*; D006801:Humans; D050543:Phosphoglycerate Dehydrogenase / Q000172:deficiency / Q000378:metabolism; D010744:Phosphoric Monoester Hydrolases / Q000172:deficiency / Q000378:metabolism; D012694:Serine / Q000172:deficiency / Q000378:metabolism / Q000627:therapeutic use*
chemical_list: D000596:Amino Acids; D012694:Serine; D050543:Phosphoglycerate Dehydrogenase; D010744:Phosphoric Monoester Hydrolases; C022394:phosphoserine phosphatase; D005998:Glycine