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Decreased CSF glycine concentration

MedGen UID:
1815110
•Concept ID:
C5706204
•
Finding
Synonym: Glycine low in CSF
 
HPO: HP:0034390

Definition

Abnormally decreased levels of glycine in cerebrospinal fluid. [from HPO]

Conditions with this feature

PSAT deficiency
MedGen UID:
410026
•Concept ID:
C1970253
•
Disease or Syndrome
Deficiency of phosphoserine aminotransferase (PSAT) is characterized biochemically by low plasma and cerebrospinal fluid (CSF) concentrations of serine and glycine and clinically by intractable seizures, acquired microcephaly, hypertonia, and psychomotor retardation. Outcome is poor once the individual becomes symptomatic, but treatment with serine and glycine supplementation from birth can lead to a normal outcome (Hart et al., 2007).
See: Condition Record
PSAT deficiency

Professional guidelines

PubMed

Pharmacological manipulation of kynurenic acid: potential in the treatment of psychiatric disorders.
Erhardt S, Olsson SK, Engberg G
CNS Drugs 2009;23(2):91-101. doi: 10.2165/00023210-200923020-00001. PMID: 19173370
Cerebrospinal fluid S-adenosylmethionine (SAMe) and glutathione concentrations in HIV infection: effect of parenteral treatment with SAMe.
Castagna A, Le Grazie C, Accordini A, Giulidori P, Cavalli G, Bottiglieri T, Lazzarin A
Neurology 1995 Sep;45(9):1678-83. doi: 10.1212/wnl.45.9.1678. PMID: 7675226

Recent clinical studies

Etiology

Intrathecal and systemic alterations of L-arginine metabolism in patients after intracerebral hemorrhage.
Mader MM, Böger R, Appel D, Schwedhelm E, Haddad M, Mohme M, Lamszus K, Westphal M, Czorlich P, Hannemann J
J Cereb Blood Flow Metab 2021 Aug;41(8):1964-1977. Epub 2021 Jan 18 doi: 10.1177/0271678X20983216. PMID: 33461409Free PMC Article
D-amino acid aberrations in cerebrospinal fluid and plasma of smokers.
Luykx JJ, Bakker SC, van Boxmeer L, Vinkers CH, Smeenk HE, Visser WF, Verhoeven-Duif NM, Strengman E, Buizer-Voskamp JE, de Groene L, van Dongen EP, Borgdorff P, Bruins P, de Koning TJ, Kahn RS, Ophoff RA
Neuropsychopharmacology 2013 Sep;38(10):2019-26. Epub 2013 Apr 24 doi: 10.1038/npp.2013.103. PMID: 23615666Free PMC Article
Leukocyte glutamate dehydrogenase and CSF amino acids in late onset ataxias.
Kaakkola S, Marnela KM, Oja SS, Icén A, Palo J
Acta Neurol Scand 1990 Nov;82(5):292-6. doi: 10.1111/j.1600-0404.1990.tb03306.x. PMID: 2281745
Amino acid concentrations in cerebrospinal fluid and plasma in Alzheimer's disease and healthy control subjects.
Basun H, Forssell LG, Almkvist O, Cowburn RF, Eklöf R, Winblad B, Wetterberg L
J Neural Transm Park Dis Dement Sect 1990;2(4):295-304. doi: 10.1007/BF02252924. PMID: 2078309
Changes in free amino acids of cerebrospinal fluid and plasma in various neurological diseases.
Iijima K, Takase S, Tsumuraya K, Endo M, Itahara K
Tohoku J Exp Med 1978 Oct;126(2):133-50. doi: 10.1620/tjem.126.133. PMID: 715764

Diagnosis

Amino acid metabolism in patients with propionic acidaemia.
Scholl-Bürgi S, Sass JO, Zschocke J, Karall D
J Inherit Metab Dis 2012 Jan;35(1):65-70. Epub 2010 Nov 27 doi: 10.1007/s10545-010-9245-9. PMID: 21113738
Aseptic meningitis in association with glyphosate-surfactant herbicide poisoning.
Sato C, Kamijo Y, Yoshimura K, Ide T
Clin Toxicol (Phila) 2011 Feb;49(2):118-20. doi: 10.3109/15563650.2011.552065. PMID: 21370950
Amino acids acting as transmitters in amyotrophic lateral sclerosis (ALS).
Niebroj-Dobosz I, Janik P
Acta Neurol Scand 1999 Jul;100(1):6-11. doi: 10.1111/j.1600-0404.1999.tb00717.x. PMID: 10416506
Leukocyte glutamate dehydrogenase and CSF amino acids in late onset ataxias.
Kaakkola S, Marnela KM, Oja SS, Icén A, Palo J
Acta Neurol Scand 1990 Oct;82(4):225-9. doi: 10.1111/j.1600-0404.1990.tb01610.x. PMID: 2270751
Abnormalities of the brain in nonketotic hyperglycinemia: MR manifestations.
Press GA, Barshop BA, Haas RH, Nyhan WL, Glass RF, Hesselink JR
AJNR Am J Neuroradiol 1989 Mar-Apr;10(2):315-21. PMID: 2494850Free PMC Article

Therapy

Evaluation of Metabolic and Synaptic Dysfunction Hypotheses of Alzheimer's Disease (AD): A Meta-Analysis of CSF Markers.
Manyevitch R, Protas M, Scarpiello S, Deliso M, Bass B, Nanajian A, Chang M, Thompson SM, Khoury N, Gonnella R, Trotz M, Moore DB, Harms E, Perry G, Clunes L, Ortiz A, Friedrich JO, Murray IVJ
Curr Alzheimer Res 2018;15(2):164-181. doi: 10.2174/1567205014666170921122458. PMID: 28933272Free PMC Article
Pharmacological manipulation of kynurenic acid: potential in the treatment of psychiatric disorders.
Erhardt S, Olsson SK, Engberg G
CNS Drugs 2009;23(2):91-101. doi: 10.2165/00023210-200923020-00001. PMID: 19173370
Cerebrospinal fluid D-serine and glycine concentrations are unaltered and unaffected by olanzapine therapy in male schizophrenic patients.
Fuchs SA, De Barse MM, Scheepers FE, Cahn W, Dorland L, de Sain-van der Velden MG, Klomp LW, Berger R, Kahn RS, de Koning TJ
Eur Neuropsychopharmacol 2008 May;18(5):333-8. Epub 2008 Feb 7 doi: 10.1016/j.euroneuro.2007.12.002. PMID: 18261886
Neuroprotective effects of glycine for therapy of acute ischaemic stroke.
Gusev EI, Skvortsova VI, Dambinova SA, Raevskiy KS, Alekseev AA, Bashkatova VG, Kovalenko AV, Kudrin VS, Yakovleva EV
Cerebrovasc Dis 2000 Jan-Feb;10(1):49-60. doi: 10.1159/000016025. PMID: 10629347
Cerebrospinal fluid S-adenosylmethionine (SAMe) and glutathione concentrations in HIV infection: effect of parenteral treatment with SAMe.
Castagna A, Le Grazie C, Accordini A, Giulidori P, Cavalli G, Bottiglieri T, Lazzarin A
Neurology 1995 Sep;45(9):1678-83. doi: 10.1212/wnl.45.9.1678. PMID: 7675226

Prognosis

Novel mutations in 3-phosphoglycerate dehydrogenase (PHGDH) are distributed throughout the protein and result in altered enzyme kinetics.
Tabatabaie L, de Koning TJ, Geboers AJ, van den Berg IE, Berger R, Klomp LW
Hum Mutat 2009 May;30(5):749-56. doi: 10.1002/humu.20934. PMID: 19235232
Amino acids acting as transmitters in amyotrophic lateral sclerosis (ALS).
Niebroj-Dobosz I, Janik P
Acta Neurol Scand 1999 Jul;100(1):6-11. doi: 10.1111/j.1600-0404.1999.tb00717.x. PMID: 10416506
Isolated biotin-resistant 3-methylcrotonyl-CoA carboxylase deficiency: long-term outcome in a case with neonatal onset.
Lehnert W, Niederhoff H, Suormala T, Baumgartner ER
Eur J Pediatr 1996 Jul;155(7):568-72. doi: 10.1007/BF01957906. PMID: 8831079
Failure of strychnine treatment during the neonatal period in three Finnish children with nonketotic hyperglycinemia.
von Wendt L, Similä S, Saukkonen AL, Koivisto M
Pediatrics 1980 Jun;65(6):1166-9. PMID: 7375243

Clinical prediction guides

Intrathecal and systemic alterations of L-arginine metabolism in patients after intracerebral hemorrhage.
Mader MM, Böger R, Appel D, Schwedhelm E, Haddad M, Mohme M, Lamszus K, Westphal M, Czorlich P, Hannemann J
J Cereb Blood Flow Metab 2021 Aug;41(8):1964-1977. Epub 2021 Jan 18 doi: 10.1177/0271678X20983216. PMID: 33461409Free PMC Article
Evaluation of Metabolic and Synaptic Dysfunction Hypotheses of Alzheimer's Disease (AD): A Meta-Analysis of CSF Markers.
Manyevitch R, Protas M, Scarpiello S, Deliso M, Bass B, Nanajian A, Chang M, Thompson SM, Khoury N, Gonnella R, Trotz M, Moore DB, Harms E, Perry G, Clunes L, Ortiz A, Friedrich JO, Murray IVJ
Curr Alzheimer Res 2018;15(2):164-181. doi: 10.2174/1567205014666170921122458. PMID: 28933272Free PMC Article
Amino acid metabolism in patients with propionic acidaemia.
Scholl-Bürgi S, Sass JO, Zschocke J, Karall D
J Inherit Metab Dis 2012 Jan;35(1):65-70. Epub 2010 Nov 27 doi: 10.1007/s10545-010-9245-9. PMID: 21113738
Cerebrospinal fluid D-serine and glycine concentrations are unaltered and unaffected by olanzapine therapy in male schizophrenic patients.
Fuchs SA, De Barse MM, Scheepers FE, Cahn W, Dorland L, de Sain-van der Velden MG, Klomp LW, Berger R, Kahn RS, de Koning TJ
Eur Neuropsychopharmacol 2008 May;18(5):333-8. Epub 2008 Feb 7 doi: 10.1016/j.euroneuro.2007.12.002. PMID: 18261886
Neuroprotective effects of glycine for therapy of acute ischaemic stroke.
Gusev EI, Skvortsova VI, Dambinova SA, Raevskiy KS, Alekseev AA, Bashkatova VG, Kovalenko AV, Kudrin VS, Yakovleva EV
Cerebrovasc Dis 2000 Jan-Feb;10(1):49-60. doi: 10.1159/000016025. PMID: 10629347

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