Disorders of GABA, glycine, serine, and proline

Research output: Chapter in Book/Report/Conference proceedingBook chapter


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.


External organisations
  • University Hospitals Leuven
  • University Medical Center Utrecht
Research areas and keywords

Subject classification (UKÄ) – MANDATORY

  • Other Clinical Medicine
Original languageEnglish
Title of host publicationPhysician's Guide to the Treatment and Follow-Up of Metabolic Diseases
Number of pages6
ISBN (Print)354022954X, 9783540229544
Publication statusPublished - 2006 Dec 1
Publication categoryResearch
Externally publishedYes