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Increased CSF ribose concentration

MedGen UID:
1638557
•Concept ID:
C4703639
•
Finding
Synonyms: Increased level of ribose in cerebrospinal fluid; Increased level of ribose in CSF
 
HPO: HP:0410073

Definition

The concentration of ribose in the cerebrospinal fluid is above the upper limit of normal. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVIncreased CSF ribose concentration

Conditions with this feature

Deficiency of ribose-5-phosphate isomerase
MedGen UID:
220946
•Concept ID:
C1291609
•
Disease or Syndrome
Ribose 5-phosphate isomerase deficiency (RPIAD) is an autosomal recessive inborn error of metabolism of the pentose phosphate pathway that presents with leukoencephalopathy and peripheral neuropathy (Huck et al., 2004).
See: Condition Record
Deficiency of ribose-5-phosphate isomerase

Recent clinical studies

Etiology

Oxytocin release via activation of TRPM2 and CD38 in the hypothalamus during hyperthermia in mice: Implication for autism spectrum disorder.
Higashida H, Yuhi T, Akther S, Amina S, Zhong J, Liang M, Nishimura T, Liu HX, Lopatina O
Neurochem Int 2018 Oct;119:42-48. Epub 2017 Jul 20 doi: 10.1016/j.neuint.2017.07.009. PMID: 28736241

Diagnosis

Priming effects of granulocyte-macrophage colony-stimulating factor are coupled to cholera toxin-sensitive guanine nucleotide binding protein in human T lymphocytes.
al-Aoukaty A, Giaid A, Sinoff C, Ho AD, Maghazachi AA
Blood 1994 Mar 1;83(5):1299-309. PMID: 8118033

Therapy

Cytotoxic evaluation and induction of mitochondria-mediated apoptosis in human leukaemia HL-60 cells by Carissa spinarum stem isolate.
Sehar I, Pal HC, Shukla S, Bhushan S, Hamid A, Gupta BD, Saxena AK
J Pharm Pharmacol 2011 Aug;63(8):1078-90. Epub 2011 Jun 11 doi: 10.1111/j.2042-7158.2011.01310.x. PMID: 21718292
Priming effects of granulocyte-macrophage colony-stimulating factor are coupled to cholera toxin-sensitive guanine nucleotide binding protein in human T lymphocytes.
al-Aoukaty A, Giaid A, Sinoff C, Ho AD, Maghazachi AA
Blood 1994 Mar 1;83(5):1299-309. PMID: 8118033

Prognosis

Metabolic profiling during HIV-1 and HIV-2 infection of primary human monocyte-derived macrophages.
Hollenbaugh JA, Montero C, Schinazi RF, Munger J, Kim B
Virology 2016 Apr;491:106-14. Epub 2016 Feb 16 doi: 10.1016/j.virol.2016.01.023. PMID: 26895248Free PMC Article

Clinical prediction guides

Oxytocin release via activation of TRPM2 and CD38 in the hypothalamus during hyperthermia in mice: Implication for autism spectrum disorder.
Higashida H, Yuhi T, Akther S, Amina S, Zhong J, Liang M, Nishimura T, Liu HX, Lopatina O
Neurochem Int 2018 Oct;119:42-48. Epub 2017 Jul 20 doi: 10.1016/j.neuint.2017.07.009. PMID: 28736241
Metabolic profiling during HIV-1 and HIV-2 infection of primary human monocyte-derived macrophages.
Hollenbaugh JA, Montero C, Schinazi RF, Munger J, Kim B
Virology 2016 Apr;491:106-14. Epub 2016 Feb 16 doi: 10.1016/j.virol.2016.01.023. PMID: 26895248Free PMC Article
Quantification of poly(ADP-ribose)-modified proteins in cerebrospinal fluid from infants and children after traumatic brain injury.
Fink EL, Lai Y, Zhang X, Janesko-Feldman K, Adelson PD, Szabó C, Berger RP, Sarnaik AA, Kochanek PM, Clark RS
J Cereb Blood Flow Metab 2008 Sep;28(9):1523-9. Epub 2008 May 28 doi: 10.1038/jcbfm.2008.52. PMID: 18506195Free PMC Article
Priming effects of granulocyte-macrophage colony-stimulating factor are coupled to cholera toxin-sensitive guanine nucleotide binding protein in human T lymphocytes.
al-Aoukaty A, Giaid A, Sinoff C, Ho AD, Maghazachi AA
Blood 1994 Mar 1;83(5):1299-309. PMID: 8118033

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