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Hypoglutaminemia

MedGen UID:
1671003
•Concept ID:
C4732901
•
Finding
Synonyms: Decreased blood glutamine concentration; Low blood glutamine level
 
HPO: HP:0500147

Definition

Decreased amount of glutamine in the blood. [from HPO]

Conditions with this feature

Congenital brain dysgenesis due to glutamine synthetase deficiency
MedGen UID:
400638
•Concept ID:
C1864910
•
Disease or Syndrome
Congenital glutamine deficiency (GLND) is a severe autosomal recessive disorder characterized by onset at birth of encephalopathy, lack of normal development, seizures, and hypotonia associated with variable brain abnormalities (summary by Haberle et al., 2011).
See: Condition Record
Congenital brain dysgenesis due to glutamine synthetase deficiency

Recent clinical studies

Etiology

Plasma glutamine status at intensive care unit admission: an independent risk factor for mortality in critical illness.
Smedberg M, Helleberg J, Norberg Å, Tjäder I, Rooyackers O, Wernerman J
Crit Care 2021 Jul 7;25(1):240. doi: 10.1186/s13054-021-03640-3. PMID: 34233720Free PMC Article
Glutaminemia prognostic significance in critical surgical patients - An analysis of plasma aminogram profile.
Costa BP, Martins P, Verissimo C, Simões M, Tomé M, Grazina M, Pimentel J, Sousa FC
Nutr Hosp 2017 Jul 28;34(4):799-807. doi: 10.20960/nh.817. PMID: 29095001
Prolonged continuous intravenous infusion of the dipeptide L-alanine- L-glutamine significantly increases plasma glutamine and alanine without elevating brain glutamate in patients with severe traumatic brain injury.
Nägeli M, Fasshauer M, Sommerfeld J, Fendel A, Brandi G, Stover JF
Crit Care 2014 Jul 2;18(4):R139. doi: 10.1186/cc13962. PMID: 24992948Free PMC Article
Is the metabolic response to injury different with or without severe head injury? Significance of plasma glutamine levels.
Petersen SR, Jeevanandam M, Harrington T
J Trauma 1993 May;34(5):653-60; discussion 660-1. doi: 10.1097/00005373-199305000-00007. PMID: 8496999

Diagnosis

Plasma glutamine status at intensive care unit admission: an independent risk factor for mortality in critical illness.
Smedberg M, Helleberg J, Norberg Å, Tjäder I, Rooyackers O, Wernerman J
Crit Care 2021 Jul 7;25(1):240. doi: 10.1186/s13054-021-03640-3. PMID: 34233720Free PMC Article
Prolonged continuous intravenous infusion of the dipeptide L-alanine- L-glutamine significantly increases plasma glutamine and alanine without elevating brain glutamate in patients with severe traumatic brain injury.
Nägeli M, Fasshauer M, Sommerfeld J, Fendel A, Brandi G, Stover JF
Crit Care 2014 Jul 2;18(4):R139. doi: 10.1186/cc13962. PMID: 24992948Free PMC Article

Therapy

Is the glutamine story over?
Smedberg M, Wernerman J
Crit Care 2016 Nov 10;20(1):361. doi: 10.1186/s13054-016-1531-y. PMID: 27829456Free PMC Article
Prolonged continuous intravenous infusion of the dipeptide L-alanine- L-glutamine significantly increases plasma glutamine and alanine without elevating brain glutamate in patients with severe traumatic brain injury.
Nägeli M, Fasshauer M, Sommerfeld J, Fendel A, Brandi G, Stover JF
Crit Care 2014 Jul 2;18(4):R139. doi: 10.1186/cc13962. PMID: 24992948Free PMC Article

Prognosis

Plasma glutamine status at intensive care unit admission: an independent risk factor for mortality in critical illness.
Smedberg M, Helleberg J, Norberg Å, Tjäder I, Rooyackers O, Wernerman J
Crit Care 2021 Jul 7;25(1):240. doi: 10.1186/s13054-021-03640-3. PMID: 34233720Free PMC Article
Endogenous production of glutamine and plasma glutamine concentration in critically ill patients.
Smedberg M, Rooyackers O, Norberg Å, Tjäder I, Wernerman J
Clin Nutr ESPEN 2020 Dec;40:226-230. Epub 2020 Oct 7 doi: 10.1016/j.clnesp.2020.09.015. PMID: 33183541
Glutaminemia prognostic significance in critical surgical patients - An analysis of plasma aminogram profile.
Costa BP, Martins P, Verissimo C, Simões M, Tomé M, Grazina M, Pimentel J, Sousa FC
Nutr Hosp 2017 Jul 28;34(4):799-807. doi: 10.20960/nh.817. PMID: 29095001

Clinical prediction guides

Plasma glutamine status at intensive care unit admission: an independent risk factor for mortality in critical illness.
Smedberg M, Helleberg J, Norberg Å, Tjäder I, Rooyackers O, Wernerman J
Crit Care 2021 Jul 7;25(1):240. doi: 10.1186/s13054-021-03640-3. PMID: 34233720Free PMC Article
Endogenous production of glutamine and plasma glutamine concentration in critically ill patients.
Smedberg M, Rooyackers O, Norberg Å, Tjäder I, Wernerman J
Clin Nutr ESPEN 2020 Dec;40:226-230. Epub 2020 Oct 7 doi: 10.1016/j.clnesp.2020.09.015. PMID: 33183541
Glutaminemia prognostic significance in critical surgical patients - An analysis of plasma aminogram profile.
Costa BP, Martins P, Verissimo C, Simões M, Tomé M, Grazina M, Pimentel J, Sousa FC
Nutr Hosp 2017 Jul 28;34(4):799-807. doi: 10.20960/nh.817. PMID: 29095001
Normalizing glutamine concentration causes mitochondrial uncoupling in an in vitro model of human skeletal muscle.
Krajcova A, Ziak J, Jiroutkova K, Patkova J, Elkalaf M, Dzupa V, Trnka J, Duska F
JPEN J Parenter Enteral Nutr 2015 Feb;39(2):180-9. Epub 2013 Nov 29 doi: 10.1177/0148607113513801. PMID: 24291738

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