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Chronic metabolic acidosis

MedGen UID:
488930
Concept ID:
C0740749
Disease or Syndrome
HPO: HP:0001996

Definition

Longstanding metabolic acidosis. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVChronic metabolic acidosis

Conditions with this feature

Glutathione synthetase deficiency with 5-oxoprolinuria
MedGen UID:
97988
Concept ID:
C0398746
Disease or Syndrome
Glutathione synthetase deficiency, or 5-oxoprolinuria, is an autosomal recessive disorder characterized, in its severe form, by massive urinary excretion of 5-oxoproline, metabolic acidosis, hemolytic anemia, and central nervous system damage. The metabolic defect results in decreased levels of cellular glutathione, which overstimulates the synthesis of gamma-glutamylcysteine and its subsequent conversion to 5-oxoproline (Larsson and Anderson, 2001).

Professional guidelines

PubMed

Gregg LP, Bossola M, Ostrosky-Frid M, Hedayati SS
Clin J Am Soc Nephrol 2021 Sep;16(9):1445-1455. Epub 2021 Apr 15 doi: 10.2215/CJN.19891220. PMID: 33858827Free PMC Article
Giglio S, Montini G, Trepiccione F, Gambaro G, Emma F
J Nephrol 2021 Dec;34(6):2073-2083. Epub 2021 Mar 26 doi: 10.1007/s40620-021-01032-y. PMID: 33770395Free PMC Article
Kraut JA, Madias NE
Nat Rev Nephrol 2010 May;6(5):274-85. Epub 2010 Mar 23 doi: 10.1038/nrneph.2010.33. PMID: 20308999

Recent clinical studies

Etiology

Naber T, Purohit S
Nutrients 2021 Sep 19;13(9) doi: 10.3390/nu13093277. PMID: 34579153Free PMC Article
Gregg LP, Bossola M, Ostrosky-Frid M, Hedayati SS
Clin J Am Soc Nephrol 2021 Sep;16(9):1445-1455. Epub 2021 Apr 15 doi: 10.2215/CJN.19891220. PMID: 33858827Free PMC Article
Giglio S, Montini G, Trepiccione F, Gambaro G, Emma F
J Nephrol 2021 Dec;34(6):2073-2083. Epub 2021 Mar 26 doi: 10.1007/s40620-021-01032-y. PMID: 33770395Free PMC Article
Chen W, Abramowitz MK
Adv Chronic Kidney Dis 2017 Sep;24(5):280-288. doi: 10.1053/j.ackd.2017.08.003. PMID: 29031354Free PMC Article
Kraut JA, Madias NE
Nat Rev Nephrol 2010 May;6(5):274-85. Epub 2010 Mar 23 doi: 10.1038/nrneph.2010.33. PMID: 20308999

Diagnosis

Giglio S, Montini G, Trepiccione F, Gambaro G, Emma F
J Nephrol 2021 Dec;34(6):2073-2083. Epub 2021 Mar 26 doi: 10.1007/s40620-021-01032-y. PMID: 33770395Free PMC Article
Uribarri J, Oh MS
J Am Soc Nephrol 2021 May 3;32(5):1025-1028. Epub 2021 Mar 5 doi: 10.1681/ASN.2020101509. PMID: 33769949Free PMC Article
Chen W, Abramowitz MK
Adv Chronic Kidney Dis 2017 Sep;24(5):280-288. doi: 10.1053/j.ackd.2017.08.003. PMID: 29031354Free PMC Article
Kraut JA, Madias NE
Nat Rev Nephrol 2010 May;6(5):274-85. Epub 2010 Mar 23 doi: 10.1038/nrneph.2010.33. PMID: 20308999
Israels S, Haworth JC, Dunn HG, Applegarth DA
Adv Pediatr 1976;22:267-303. PMID: 178159

Therapy

Best CM, Hsu S
Curr Opin Endocrinol Diabetes Obes 2023 Aug 1;30(4):184-191. Epub 2023 May 2 doi: 10.1097/MED.0000000000000811. PMID: 37132326
Patschan D, Patschan S, Ritter O
Kidney Blood Press Res 2020;45(6):812-822. Epub 2020 Dec 2 doi: 10.1159/000510829. PMID: 33264780
Brown DD, Roem J, Ng DK, Reidy KJ, Kumar J, Abramowitz MK, Mak RH, Furth SL, Schwartz GJ, Warady BA, Kaskel FJ, Melamed ML
Clin J Am Soc Nephrol 2020 Jun 8;15(6):755-765. Epub 2020 May 28 doi: 10.2215/CJN.07060619. PMID: 32467307Free PMC Article
Raphael KL
J Am Soc Nephrol 2018 Feb;29(2):376-382. Epub 2017 Oct 13 doi: 10.1681/ASN.2017040422. PMID: 29030467Free PMC Article
Kraut JA, Madias NE
Nat Rev Nephrol 2010 May;6(5):274-85. Epub 2010 Mar 23 doi: 10.1038/nrneph.2010.33. PMID: 20308999

Prognosis

Brown DD, Roem J, Ng DK, Reidy KJ, Kumar J, Abramowitz MK, Mak RH, Furth SL, Schwartz GJ, Warady BA, Kaskel FJ, Melamed ML
Clin J Am Soc Nephrol 2020 Jun 8;15(6):755-765. Epub 2020 May 28 doi: 10.2215/CJN.07060619. PMID: 32467307Free PMC Article
Raphael KL, Gilligan S, Ix JH
Clin J Am Soc Nephrol 2018 Feb 7;13(2):205-212. Epub 2017 Nov 2 doi: 10.2215/CJN.03770417. PMID: 29097482Free PMC Article
Căpuşă C, Ştefan G, Stancu S, Lipan M, Tsur LD, Mircescu G
Medicine (Baltimore) 2017 Nov;96(47):e8802. doi: 10.1097/MD.0000000000008802. PMID: 29381982Free PMC Article
Chen W, Abramowitz MK
Adv Chronic Kidney Dis 2017 Sep;24(5):280-288. doi: 10.1053/j.ackd.2017.08.003. PMID: 29031354Free PMC Article
Frassetto L, Morris RC Jr, Sellmeyer DE, Todd K, Sebastian A
Eur J Nutr 2001 Oct;40(5):200-13. doi: 10.1007/s394-001-8347-4. PMID: 11842945

Clinical prediction guides

Uribarri J, Oh MS
J Am Soc Nephrol 2021 May 3;32(5):1025-1028. Epub 2021 Mar 5 doi: 10.1681/ASN.2020101509. PMID: 33769949Free PMC Article
Perut F, Graziani G, Columbaro M, Caudarella R, Baldini N, Granchi D
Nutrients 2020 Dec 9;12(12) doi: 10.3390/nu12123779. PMID: 33317151Free PMC Article
Căpuşă C, Ştefan G, Stancu S, Lipan M, Tsur LD, Mircescu G
Medicine (Baltimore) 2017 Nov;96(47):e8802. doi: 10.1097/MD.0000000000008802. PMID: 29381982Free PMC Article
Chen W, Abramowitz MK
Adv Chronic Kidney Dis 2017 Sep;24(5):280-288. doi: 10.1053/j.ackd.2017.08.003. PMID: 29031354Free PMC Article
Green J
Miner Electrolyte Metab 1994;20(1-2):7-15. PMID: 8202055

Recent systematic reviews

Dolati S, Razmjouei S, Alizadeh M, Faghfouri AH, Moridpour AH
Nutr Metab Cardiovasc Dis 2024 Mar;34(3):569-580. Epub 2024 Jan 13 doi: 10.1016/j.numecd.2024.01.013. PMID: 38316575
Navaneethan SD, Shao J, Buysse J, Bushinsky DA
Clin J Am Soc Nephrol 2019 Jul 5;14(7):1011-1020. Epub 2019 Jun 13 doi: 10.2215/CJN.13091118. PMID: 31196951Free PMC Article
Roderick P, Willis NS, Blakeley S, Jones C, Tomson C
Cochrane Database Syst Rev 2007 Jan 24;2007(1):CD001890. doi: 10.1002/14651858.CD001890.pub3. PMID: 17253467Free PMC Article

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