Disorders of GABA, glycine, serine, and proline
(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.
(Less)
- author
- Jaeken, Jaak and De Koning, Tom J. LU
- publishing date
- 2006-12-01
- 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
- 2022-02-01 04:54:07
@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}}, }