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Elevated brain glycine level by MRS

MedGen UID:
1842032
•Concept ID:
C5826743
•
Finding
HPO: HP:0034893

Definition

An increase in the level of glycine in the brain identified by magnetic resonance spectroscopy (MRS). [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVElevated brain glycine level by MRS

Conditions with this feature

Multiple mitochondrial dysfunctions syndrome 7
MedGen UID:
1841222
•Concept ID:
C5830586
•
Disease or Syndrome
Mitochondrial dysfunctions syndrome-7 (MMDS7) is an autosomal recessive disorder characterized by a clinical spectrum ranging from neonatal fatal glycine encephalopathy to an attenuated phenotype of developmental delay, behavioral problems, limited epilepsy, and variable movement problems (Arribas-Carreira et al., 2023). For a general description and a discussion of genetic heterogeneity of multiple mitochondrial dysfunctions syndrome, see MMDS1 (605711).
See: Condition Record
Multiple mitochondrial dysfunctions syndrome 7

Recent clinical studies

Etiology

Creatine Transporter Deficiency Presenting as Failure to Thrive: A Case Report of a Novel SLC6A8 Variant Causing a Treatable but Likely Underdiagnosed Genetic Disorder.
Tise CG, Palma MJ, Cusmano-Ozog KP, Matalon DR
J Investig Med High Impact Case Rep 2023 Jan-Dec;11:23247096231154438. doi: 10.1177/23247096231154438. PMID: 36752093Free PMC Article
Neurometabolite mapping highlights elevated myo-inositol profiles within the developing brain in down syndrome.
Patkee PA, Baburamani AA, Long KR, Dimitrova R, Ciarrusta J, Allsop J, Hughes E, Kangas J, McAlonan GM, Rutherford MA, De Vita E
Neurobiol Dis 2021 Jun;153:105316. Epub 2021 Mar 9 doi: 10.1016/j.nbd.2021.105316. PMID: 33711492Free PMC Article
High-resolution magic angle spinning magnetic resonance spectroscopy detects glycine as a biomarker in brain tumors.
Righi V, Andronesi OC, Mintzopoulos D, Black PM, Tzika AA
Int J Oncol 2010 Feb;36(2):301-6. doi: 10.3892/ijo_00000500. PMID: 20043062Free PMC Article
In vivo 1H magnetic resonance spectroscopic measurement of brain glycine levels in nonketotic hyperglycinemia.
Gabis L, Parton P, Roche P, Lenn N, Tudorica A, Huang W
J Neuroimaging 2001 Apr;11(2):209-11. doi: 10.1111/j.1552-6569.2001.tb00036.x. PMID: 11296595

Diagnosis

Creatine Transporter Deficiency Presenting as Failure to Thrive: A Case Report of a Novel SLC6A8 Variant Causing a Treatable but Likely Underdiagnosed Genetic Disorder.
Tise CG, Palma MJ, Cusmano-Ozog KP, Matalon DR
J Investig Med High Impact Case Rep 2023 Jan-Dec;11:23247096231154438. doi: 10.1177/23247096231154438. PMID: 36752093Free PMC Article
Ketogenic diet as a glycine lowering therapy in nonketotic hyperglycinemia and impact on brain glycine levels.
Shelkowitz E, Saneto RP, Al-Hertani W, Lubout CMA, Stence NV, Brown MS, Long P, Walleigh D, Nelson JA, Perez FE, Shaw DWW, Michl EJ, Van Hove JLK
Orphanet J Rare Dis 2022 Dec 5;17(1):423. doi: 10.1186/s13023-022-02581-6. PMID: 36471344Free PMC Article
Intracerebral blood and MRS in neonatal nonketotic hyperglycinemia.
Manley BJ, Sokol J, Cheong JL
Pediatr Neurol 2010 Mar;42(3):219-22. doi: 10.1016/j.pediatrneurol.2009.10.013. PMID: 20159434
Hypomyelination and reversible white matter attenuation in 3-phosphoglycerate dehydrogenase deficiency.
de Koning TJ, Jaeken J, Pineda M, Van Maldergem L, Poll-The BT, van der Knaap MS
Neuropediatrics 2000 Dec;31(6):287-92. doi: 10.1055/s-2000-12944. PMID: 11508546
Oligodendroglial gliomatosis cerebri: (1)H-MRS suggests elevated glycine/inositol levels.
Gutowski NJ, Gómez-Ansón B, Torpey N, Revesz T, Miller D, Rudge P
Neuroradiology 1999 Sep;41(9):650-3. doi: 10.1007/s002340050818. PMID: 10525765

Therapy

Ketogenic diet as a glycine lowering therapy in nonketotic hyperglycinemia and impact on brain glycine levels.
Shelkowitz E, Saneto RP, Al-Hertani W, Lubout CMA, Stence NV, Brown MS, Long P, Walleigh D, Nelson JA, Perez FE, Shaw DWW, Michl EJ, Van Hove JLK
Orphanet J Rare Dis 2022 Dec 5;17(1):423. doi: 10.1186/s13023-022-02581-6. PMID: 36471344Free PMC Article
Guanidinoacetic acid loading for improved location-specific brain creatine.
Ostojic SM
Clin Nutr 2021 Jan;40(1):324-326. Epub 2020 May 11 doi: 10.1016/j.clnu.2020.05.003. PMID: 32439266
Oral glycine administration increases brain glycine/creatine ratios in men: a proton magnetic resonance spectroscopy study.
Kaufman MJ, Prescot AP, Ongur D, Evins AE, Barros TL, Medeiros CL, Covell J, Wang L, Fava M, Renshaw PF
Psychiatry Res 2009 Aug 30;173(2):143-9. Epub 2009 Jun 24 doi: 10.1016/j.pscychresns.2009.03.004. PMID: 19556112Free PMC Article
Hypomyelination and reversible white matter attenuation in 3-phosphoglycerate dehydrogenase deficiency.
de Koning TJ, Jaeken J, Pineda M, Van Maldergem L, Poll-The BT, van der Knaap MS
Neuropediatrics 2000 Dec;31(6):287-92. doi: 10.1055/s-2000-12944. PMID: 11508546
High resolution proton MR spectroscopy of cerebrospinal fluid in MS patients. Comparison with biochemical changes in demyelinating plaques.
Simone IL, Federico F, Trojano M, Tortorella C, Liguori M, Giannini P, Picciola E, Natile G, Livrea P
J Neurol Sci 1996 Dec;144(1-2):182-90. doi: 10.1016/s0022-510x(96)00224-9. PMID: 8994122

Prognosis

Glycine by MR spectroscopy is an imaging biomarker of glioma aggressiveness.
Tiwari V, Daoud EV, Hatanpaa KJ, Gao A, Zhang S, An Z, Ganji SK, Raisanen JM, Lewis CM, Askari P, Baxter J, Levy M, Dimitrov I, Thomas BP, Pinho MC, Madden CJ, Pan E, Patel TR, DeBerardinis RJ, Sherry AD, Mickey BE, Malloy CR, Maher EA, Choi C
Neuro Oncol 2020 Jul 7;22(7):1018-1029. doi: 10.1093/neuonc/noaa034. PMID: 32055850Free PMC Article
In vivo 1H magnetic resonance spectroscopic measurement of brain glycine levels in nonketotic hyperglycinemia.
Gabis L, Parton P, Roche P, Lenn N, Tudorica A, Huang W
J Neuroimaging 2001 Apr;11(2):209-11. doi: 10.1111/j.1552-6569.2001.tb00036.x. PMID: 11296595
High resolution proton MR spectroscopy of cerebrospinal fluid in MS patients. Comparison with biochemical changes in demyelinating plaques.
Simone IL, Federico F, Trojano M, Tortorella C, Liguori M, Giannini P, Picciola E, Natile G, Livrea P
J Neurol Sci 1996 Dec;144(1-2):182-90. doi: 10.1016/s0022-510x(96)00224-9. PMID: 8994122

Clinical prediction guides

Ketogenic diet as a glycine lowering therapy in nonketotic hyperglycinemia and impact on brain glycine levels.
Shelkowitz E, Saneto RP, Al-Hertani W, Lubout CMA, Stence NV, Brown MS, Long P, Walleigh D, Nelson JA, Perez FE, Shaw DWW, Michl EJ, Van Hove JLK
Orphanet J Rare Dis 2022 Dec 5;17(1):423. doi: 10.1186/s13023-022-02581-6. PMID: 36471344Free PMC Article
Neurometabolite mapping highlights elevated myo-inositol profiles within the developing brain in down syndrome.
Patkee PA, Baburamani AA, Long KR, Dimitrova R, Ciarrusta J, Allsop J, Hughes E, Kangas J, McAlonan GM, Rutherford MA, De Vita E
Neurobiol Dis 2021 Jun;153:105316. Epub 2021 Mar 9 doi: 10.1016/j.nbd.2021.105316. PMID: 33711492Free PMC Article
Glycine by MR spectroscopy is an imaging biomarker of glioma aggressiveness.
Tiwari V, Daoud EV, Hatanpaa KJ, Gao A, Zhang S, An Z, Ganji SK, Raisanen JM, Lewis CM, Askari P, Baxter J, Levy M, Dimitrov I, Thomas BP, Pinho MC, Madden CJ, Pan E, Patel TR, DeBerardinis RJ, Sherry AD, Mickey BE, Malloy CR, Maher EA, Choi C
Neuro Oncol 2020 Jul 7;22(7):1018-1029. doi: 10.1093/neuonc/noaa034. PMID: 32055850Free PMC Article
High-resolution magic angle spinning magnetic resonance spectroscopy detects glycine as a biomarker in brain tumors.
Righi V, Andronesi OC, Mintzopoulos D, Black PM, Tzika AA
Int J Oncol 2010 Feb;36(2):301-6. doi: 10.3892/ijo_00000500. PMID: 20043062Free PMC Article
High resolution proton MR spectroscopy of cerebrospinal fluid in MS patients. Comparison with biochemical changes in demyelinating plaques.
Simone IL, Federico F, Trojano M, Tortorella C, Liguori M, Giannini P, Picciola E, Natile G, Livrea P
J Neurol Sci 1996 Dec;144(1-2):182-90. doi: 10.1016/s0022-510x(96)00224-9. PMID: 8994122

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