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Disorders of GABA, glycine, serine, and proline

Jaeken, Jaak and De Koning, Tom J. LU (2006) p.43-48
Abstract

Only for three of the known defects in the metabolism of the amino acidsGABA, glycine, serine, and proline has a more-or-less efficient treatment been reported: the GABA catabolic defect, succinic semialdehyde dehydrogenase deficiency (vigabatrin, causing substrate depletion by inhibition of GABA transaminase); the glycine catabolic defect, nonketotic hyperglycinemia (diet combined with benzoate and an N-methyl-d-aspartate, NMDA, receptor blocker); and 3- phosphoglycerate dehydrogenase deficiency (serine supplementation, in some patients to be associated with glycine supplementation). Notreatment has as yetbeen attempted in?1-pyrroline-5-carboxylate (P5CS) synthase deficiency; and the remaining six known defects probably have no... (More)

Only for three of the known defects in the metabolism of the amino acidsGABA, glycine, serine, and proline has a more-or-less efficient treatment been reported: the GABA catabolic defect, succinic semialdehyde dehydrogenase deficiency (vigabatrin, causing substrate depletion by inhibition of GABA transaminase); the glycine catabolic defect, nonketotic hyperglycinemia (diet combined with benzoate and an N-methyl-d-aspartate, NMDA, receptor blocker); and 3- phosphoglycerate dehydrogenase deficiency (serine supplementation, in some patients to be associated with glycine supplementation). Notreatment has as yetbeen attempted in?1-pyrroline-5-carboxylate (P5CS) synthase deficiency; and the remaining six known defects probably have no clinical significance except for prolidase deficiency.

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Please use this url to cite or link to this publication:
author
and
publishing date
type
Chapter in Book/Report/Conference proceeding
publication status
published
subject
host publication
Physician's Guide to the Treatment and Follow-Up of Metabolic Diseases
pages
6 pages
publisher
Springer
external identifiers
  • scopus:84889975981
ISBN
354022954X
9783540229544
DOI
10.1007/3-540-28962-3_5
language
English
LU publication?
no
id
6905f439-8d93-4c39-af29-b7a9d962f281
date added to LUP
2020-02-28 13:58:06
date last changed
2025-10-14 12:43:56
@inbook{6905f439-8d93-4c39-af29-b7a9d962f281,
  abstract     = {{<p>Only for three of the known defects in the metabolism of the amino acidsGABA, glycine, serine, and proline has a more-or-less efficient treatment been reported: the GABA catabolic defect, succinic semialdehyde dehydrogenase deficiency (vigabatrin, causing substrate depletion by inhibition of GABA transaminase); the glycine catabolic defect, nonketotic hyperglycinemia (diet combined with benzoate and an N-methyl-d-aspartate, NMDA, receptor blocker); and 3- phosphoglycerate dehydrogenase deficiency (serine supplementation, in some patients to be associated with glycine supplementation). Notreatment has as yetbeen attempted in?1-pyrroline-5-carboxylate (P5CS) synthase deficiency; and the remaining six known defects probably have no clinical significance except for prolidase deficiency.</p>}},
  author       = {{Jaeken, Jaak and De Koning, Tom J.}},
  booktitle    = {{Physician's Guide to the Treatment and Follow-Up of Metabolic Diseases}},
  isbn         = {{354022954X}},
  language     = {{eng}},
  month        = {{12}},
  pages        = {{43--48}},
  publisher    = {{Springer}},
  title        = {{Disorders of GABA, glycine, serine, and proline}},
  url          = {{http://dx.doi.org/10.1007/3-540-28962-3_5}},
  doi          = {{10.1007/3-540-28962-3_5}},
  year         = {{2006}},
}