Treatment with amino acids in serine deficiency disorders

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58 Citaten (Scopus)

Samenvatting

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.

Originele taal-2English
Pagina's (van-tot)347-51
Aantal pagina's5
TijdschriftJournal of Inherited Metabolic Disease
Volume29
Nummer van het tijdschrift2-3
DOI's
StatusPublished - 10-jun.-2006
Extern gepubliceerdJa

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