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Gamma-amino butyric acid metabolism disorder

MedGen UID:
1842586
•Concept ID:
C4702813
•
Disease or Syndrome
Synonyms: Disorder of GABA (gamma aminobutyric acid) metabolism; Disorder of GABA metabolism; Disorder of gamma aminobutyric acid metabolism; Disorder of gamma-aminobutyric acid metabolism; gamma-amino butyric acid metabolism disorder
SNOMED CT: Disorder of gamma aminobutyric acid metabolism (16909721000119103); Disorder of gamma-aminobutyric acid metabolism (16909721000119103); Disorder of GABA (gamma aminobutyric acid) metabolism (16909721000119103)
 
Monarch Initiative: MONDO:0000698
Orphanet: ORPHA79175

Definition

An amino acid metabolic disorder characterized by impairment of the GABA catabolic pathway. [from MONDO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVGamma-amino butyric acid metabolism disorder

Professional guidelines

PubMed

Pharmacological approaches to treatment of hemiballism and hemichorea.
Becker RE, Lal H
Brain Res Bull 1983 Aug;11(2):187-9. doi: 10.1016/0361-9230(83)90189-2. PMID: 6138134

Recent clinical studies

Etiology

Reduced gamma-amino butyric acid (GABA) and glutamine in the anterior cingulate cortex (ACC) of veterans exposed to trauma.
Sheth C, Prescot AP, Legarreta M, Renshaw PF, McGlade E, Yurgelun-Todd D
J Affect Disord 2019 Apr 1;248:166-174. Epub 2019 Jan 31 doi: 10.1016/j.jad.2019.01.037. PMID: 30735853
Age-related phenotype and biomarker changes in SSADH deficiency.
DiBacco ML, Roullet JB, Kapur K, Brown MN, Walters DC, Gibson KM, Pearl PL
Ann Clin Transl Neurol 2019 Jan;6(1):114-120. Epub 2018 Dec 3 doi: 10.1002/acn3.696. PMID: 30656189Free PMC Article
Diabesity and mood disorders: Multiple links through the microbiota-gut-brain axis.
Farzi A, Hassan AM, Zenz G, Holzer P
Mol Aspects Med 2019 Apr;66:80-93. Epub 2018 Dec 13 doi: 10.1016/j.mam.2018.11.003. PMID: 30513310
Neuroimaging findings in children with paediatric neurotransmitter diseases.
Lee WT, Weng WC, Peng SF, Tzen KY
J Inherit Metab Dis 2009 Jun;32(3):361-70. Epub 2009 May 20 doi: 10.1007/s10545-009-1106-z. PMID: 19455403
The pediatric neurotransmitter disorders.
Pearl PL, Taylor JL, Trzcinski S, Sokohl A
J Child Neurol 2007 May;22(5):606-16. doi: 10.1177/0883073807302619. PMID: 17690069

Diagnosis

Postbiotic potential of Lactococcus lactis CNCM I-5388 in alleviating visceral pain in female rat through GABA production: The innovative concept of the "active-GAD bag".
Gomes P, Laroute V, Beaufrand C, Bézirard V, Aubry N, Liebgott C, Koper JEB, Parent E, Bosco N, Ballet N, Legrain-Raspaud S, Daveran-Mingot ML, Theodorou V, Cocaign-Bousquet M, Eutamene H, Mercier-Bonin M
FASEB J 2025 Feb 28;39(4):e70383. doi: 10.1096/fj.202401125RR. PMID: 39985303Free PMC Article
Reduced gamma-amino butyric acid (GABA) and glutamine in the anterior cingulate cortex (ACC) of veterans exposed to trauma.
Sheth C, Prescot AP, Legarreta M, Renshaw PF, McGlade E, Yurgelun-Todd D
J Affect Disord 2019 Apr 1;248:166-174. Epub 2019 Jan 31 doi: 10.1016/j.jad.2019.01.037. PMID: 30735853
Progress in autoimmune epileptic encephalitis.
Wright S, Vincent A
Curr Opin Neurol 2016 Apr;29(2):151-7. doi: 10.1097/WCO.0000000000000304. PMID: 26886357Free PMC Article
Discovering imaging endophenotypes for major depression.
Hasler G, Northoff G
Mol Psychiatry 2011 Jun;16(6):604-19. doi: 10.1038/mp.2011.23. PMID: 21602829
The pediatric neurotransmitter disorders.
Pearl PL, Taylor JL, Trzcinski S, Sokohl A
J Child Neurol 2007 May;22(5):606-16. doi: 10.1177/0883073807302619. PMID: 17690069

Therapy

Succinic Semialdehyde Dehydrogenase Deficiency: An Update.
Didiášová M, Banning A, Brennenstuhl H, Jung-Klawitter S, Cinquemani C, Opladen T, Tikkanen R
Cells 2020 Feb 19;9(2) doi: 10.3390/cells9020477. PMID: 32093054Free PMC Article
Engaging homeostatic plasticity to treat depression.
Workman ER, Niere F, Raab-Graham KF
Mol Psychiatry 2018 Jan;23(1):26-35. Epub 2017 Nov 14 doi: 10.1038/mp.2017.225. PMID: 29133952
Progress in autoimmune epileptic encephalitis.
Wright S, Vincent A
Curr Opin Neurol 2016 Apr;29(2):151-7. doi: 10.1097/WCO.0000000000000304. PMID: 26886357Free PMC Article
An update on oxidative stress-mediated organ pathophysiology.
Rashid K, Sinha K, Sil PC
Food Chem Toxicol 2013 Dec;62:584-600. Epub 2013 Sep 29 doi: 10.1016/j.fct.2013.09.026. PMID: 24084033
Vigabatrin.
French JA
Epilepsia 1999;40 Suppl 5:S11-6. doi: 10.1111/j.1528-1157.1999.tb00914.x. PMID: 10530689

Prognosis

Lack of association between pretreatment glutamate/GABA and major depressive disorder treatment response.
Dai F, Wengler K, He X, Wang J, Yang J, Parsey RV, DeLorenzo C
Transl Psychiatry 2025 Mar 2;15(1):71. doi: 10.1038/s41398-025-03292-9. PMID: 40025010Free PMC Article
Synapse alterations precede neuronal damage and storage pathology in a human cerebral organoid model of CLN3-juvenile neuronal ceroid lipofuscinosis.
Gomez-Giro G, Arias-Fuenzalida J, Jarazo J, Zeuschner D, Ali M, Possemis N, Bolognin S, Halder R, Jäger C, Kuper WFE, van Hasselt PM, Zaehres H, Del Sol A, van der Putten H, Schöler HR, Schwamborn JC
Acta Neuropathol Commun 2019 Dec 30;7(1):222. doi: 10.1186/s40478-019-0871-7. PMID: 31888773Free PMC Article
Progress in autoimmune epileptic encephalitis.
Wright S, Vincent A
Curr Opin Neurol 2016 Apr;29(2):151-7. doi: 10.1097/WCO.0000000000000304. PMID: 26886357Free PMC Article
Prolonged prenatal psychotropic medication exposure alters neonatal acute pain response.
Oberlander TF, Eckstein Grunau R, Fitzgerald C, Ellwood AL, Misri S, Rurak D, Riggs KW
Pediatr Res 2002 Apr;51(4):443-53. doi: 10.1203/00006450-200204000-00008. PMID: 11919328
Pharmacological approaches to treatment of hemiballism and hemichorea.
Becker RE, Lal H
Brain Res Bull 1983 Aug;11(2):187-9. doi: 10.1016/0361-9230(83)90189-2. PMID: 6138134

Clinical prediction guides

Depressive patient-derived GABA interneurons reveal abnormal neural activity associated with HTR2C.
Lu K, Hong Y, Tao M, Shen L, Zheng Z, Fang K, Yuan F, Xu M, Wang C, Zhu D, Guo X, Liu Y
EMBO Mol Med 2023 Jan 11;15(1):e16364. Epub 2022 Nov 14 doi: 10.15252/emmm.202216364. PMID: 36373384Free PMC Article
Age-related phenotype and biomarker changes in SSADH deficiency.
DiBacco ML, Roullet JB, Kapur K, Brown MN, Walters DC, Gibson KM, Pearl PL
Ann Clin Transl Neurol 2019 Jan;6(1):114-120. Epub 2018 Dec 3 doi: 10.1002/acn3.696. PMID: 30656189Free PMC Article
Relationships between cerebrospinal fluid GABAergic neurosteroid levels and symptom severity in men with PTSD.
Rasmusson AM, King MW, Valovski I, Gregor K, Scioli-Salter E, Pineles SL, Hamouda M, Nillni YI, Anderson GM, Pinna G
Psychoneuroendocrinology 2019 Apr;102:95-104. Epub 2018 Nov 22 doi: 10.1016/j.psyneuen.2018.11.027. PMID: 30529908Free PMC Article
Progress in autoimmune epileptic encephalitis.
Wright S, Vincent A
Curr Opin Neurol 2016 Apr;29(2):151-7. doi: 10.1097/WCO.0000000000000304. PMID: 26886357Free PMC Article
Glutamic acid decarboxylase 65 and 67 kDa proteins are reduced in autistic parietal and cerebellar cortices.
Fatemi SH, Halt AR, Stary JM, Kanodia R, Schulz SC, Realmuto GR
Biol Psychiatry 2002 Oct 15;52(8):805-10. doi: 10.1016/s0006-3223(02)01430-0. PMID: 12372652

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