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Elevated CSF ammonia concentration

MedGen UID:
1864420
•Concept ID:
C5937180
•
Finding
HPO: HP:6000394

Definition

The concentration of amonia in the cerebrospinal fluid (CSF) is above the upper limit of normal. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVElevated CSF ammonia concentration

Recent clinical studies

Etiology

CSF levels of glutamine synthetase and GFAP to explore astrocytic damage in seronegative NMOSD.
Kleerekooper I, Herbert MK, Kuiperij HB, Sato DK, Fujihara K, Callegaro D, Marignier R, Saiz A, Senel M, Tumani H, De Jong BA, Trip SA, Nakashima I, Verbeek MM, Petzold A
J Neurol Neurosurg Psychiatry 2020 Jun;91(6):605-611. Epub 2020 Mar 26 doi: 10.1136/jnnp-2019-322286. PMID: 32217788

Diagnosis

α-Ketoglutaramate: an overlooked metabolite of glutamine and a biomarker for hepatic encephalopathy and inborn errors of the urea cycle.
Cooper AJ, Kuhara T
Metab Brain Dis 2014 Dec;29(4):991-1006. Epub 2013 Nov 14 doi: 10.1007/s11011-013-9444-9. PMID: 24234505Free 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 concentrations of functionally important amino acids and metabolic compounds in patients with mild cognitive impairment and Alzheimer's disease.
Kaiser E, Schoenknecht P, Kassner S, Hildebrandt W, Kinscherf R, Schroeder J
Neurodegener Dis 2010;7(4):251-9. Epub 2010 May 5 doi: 10.1159/000287953. PMID: 20551690
Exercise-induced hyperammonemia: peripheral and central effects.
Banister EW, Cameron BJ
Int J Sports Med 1990 May;11 Suppl 2:S129-42. doi: 10.1055/s-2007-1024864. PMID: 2193891
Cerebrospinal fluid and plasma glutamine elevation by anticonvulsant drugs: a potential diagnostic and therapeutic trap.
Perry TL, Hansen S, MacLean J
Clin Chim Acta 1976 Jun 15;69(3):441-5. doi: 10.1016/0009-8981(76)90117-0. PMID: 947596

Therapy

Cerebrospinal fluid and plasma glutamine elevation by anticonvulsant drugs: a potential diagnostic and therapeutic trap.
Perry TL, Hansen S, MacLean J
Clin Chim Acta 1976 Jun 15;69(3):441-5. doi: 10.1016/0009-8981(76)90117-0. PMID: 947596

Prognosis

Cerebrospinal fluid concentrations of functionally important amino acids and metabolic compounds in patients with mild cognitive impairment and Alzheimer's disease.
Kaiser E, Schoenknecht P, Kassner S, Hildebrandt W, Kinscherf R, Schroeder J
Neurodegener Dis 2010;7(4):251-9. Epub 2010 May 5 doi: 10.1159/000287953. PMID: 20551690

Clinical prediction guides

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 concentrations of functionally important amino acids and metabolic compounds in patients with mild cognitive impairment and Alzheimer's disease.
Kaiser E, Schoenknecht P, Kassner S, Hildebrandt W, Kinscherf R, Schroeder J
Neurodegener Dis 2010;7(4):251-9. Epub 2010 May 5 doi: 10.1159/000287953. PMID: 20551690
Glutamic acid and glutamine levels in serum and cerebrospinal fluid in hepatic encephalopathy.
Watanabe A, Takei N, Higashi T, Shiota T, Nakatsukasa H, Fujiwara M, Sakata T, Nagashima H
Biochem Med 1984 Oct;32(2):225-31. doi: 10.1016/0006-2944(84)90076-0. PMID: 6150706

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