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Acidemia

MedGen UID:
541142
•Concept ID:
C0268030
•
Pathologic Function
SNOMED CT: Acidemia (70731005)
 
HPO: HP:0032368

Definition

An abnormally low blood pH (usually defined as less than 7.35). [from HPO]

Professional guidelines

PubMed

MELAS syndrome: Clinical manifestations, pathogenesis, and treatment options.
El-Hattab AW, Adesina AM, Jones J, Scaglia F
Mol Genet Metab 2015 Sep-Oct;116(1-2):4-12. Epub 2015 Jun 15 doi: 10.1016/j.ymgme.2015.06.004. PMID: 26095523
Diagnosis and management of glycogen storage disease type I: a practice guideline of the American College of Medical Genetics and Genomics.
Kishnani PS, Austin SL, Abdenur JE, Arn P, Bali DS, Boney A, Chung WK, Dagli AI, Dale D, Koeberl D, Somers MJ, Wechsler SB, Weinstein DA, Wolfsdorf JI, Watson MS; American College of Medical Genetics and Genomics
Genet Med 2014 Nov;16(11):e1. doi: 10.1038/gim.2014.128. PMID: 25356975
Proposed guidelines for the diagnosis and management of methylmalonic and propionic acidemia.
Baumgartner MR, Hörster F, Dionisi-Vici C, Haliloglu G, Karall D, Chapman KA, Huemer M, Hochuli M, Assoun M, Ballhausen D, Burlina A, Fowler B, Grünert SC, Grünewald S, Honzik T, Merinero B, Pérez-Cerdá C, Scholl-Bürgi S, Skovby F, Wijburg F, MacDonald A, Martinelli D, Sass JO, Valayannopoulos V, Chakrapani A
Orphanet J Rare Dis 2014 Sep 2;9:130. doi: 10.1186/s13023-014-0130-8. PMID: 25205257Free PMC Article

Recent clinical studies

Etiology

The role of the fetal biophysical profile in the management of fetal growth restriction.
Baschat AA, Galan HL, Lee W, DeVore GR, Mari G, Hobbins J, Vintzileos A, Platt LD, Manning FA
Am J Obstet Gynecol 2022 Apr;226(4):475-486. doi: 10.1016/j.ajog.2022.01.020. PMID: 35369904
Sodium bicarbonate therapy for acute respiratory acidosis.
Chand R, Swenson ER, Goldfarb DS
Curr Opin Nephrol Hypertens 2021 Mar 1;30(2):223-230. doi: 10.1097/MNH.0000000000000687. PMID: 33395037
Post-transplantation Outcomes in Patients with PA or MMA: A Review of the Literature.
Yap S, Vara R, Morais A
Adv Ther 2020 May;37(5):1866-1896. Epub 2020 Apr 8 doi: 10.1007/s12325-020-01305-1. PMID: 32270363Free PMC Article
Propionic acidemia consensus conference summary.
Chapman KA, Summar ML
Mol Genet Metab 2012 Jan;105(1):3-4. Epub 2011 Aug 16 doi: 10.1016/j.ymgme.2011.08.007. PMID: 21908219
Fetal drug therapy.
Evans MI, Pryde PG, Reichler A, Bardicef M, Johnson MP
West J Med 1993 Sep;159(3):325-32. PMID: 8236974Free PMC Article

Diagnosis

Acid-Base Disorders in the Critically Ill Patient.
Achanti A, Szerlip HM
Clin J Am Soc Nephrol 2023 Jan 1;18(1):102-112. Epub 2022 Aug 23 doi: 10.2215/CJN.04500422. PMID: 35998977Free PMC Article
Guidelines for the diagnosis and management of methylmalonic acidaemia and propionic acidaemia: First revision.
Forny P, Hörster F, Ballhausen D, Chakrapani A, Chapman KA, Dionisi-Vici C, Dixon M, Grünert SC, Grunewald S, Haliloglu G, Hochuli M, Honzik T, Karall D, Martinelli D, Molema F, Sass JO, Scholl-Bürgi S, Tal G, Williams M, Huemer M, Baumgartner MR
J Inherit Metab Dis 2021 May;44(3):566-592. Epub 2021 Mar 9 doi: 10.1002/jimd.12370. PMID: 33595124Free PMC Article
Methylmalonic Acidemia.
Mahmud S, Awais Ul Hassan Shah S, Ali S
J Coll Physicians Surg Pak 2015 Jun;25(6):462-4. PMID: 26101005
Proposed guidelines for the diagnosis and management of methylmalonic and propionic acidemia.
Baumgartner MR, Hörster F, Dionisi-Vici C, Haliloglu G, Karall D, Chapman KA, Huemer M, Hochuli M, Assoun M, Ballhausen D, Burlina A, Fowler B, Grünert SC, Grünewald S, Honzik T, Merinero B, Pérez-Cerdá C, Scholl-Bürgi S, Skovby F, Wijburg F, MacDonald A, Martinelli D, Sass JO, Valayannopoulos V, Chakrapani A
Orphanet J Rare Dis 2014 Sep 2;9:130. doi: 10.1186/s13023-014-0130-8. PMID: 25205257Free PMC Article
Toxicologic acid-base disorders.
Wiener SW
Emerg Med Clin North Am 2014 Feb;32(1):149-65. doi: 10.1016/j.emc.2013.09.011. PMID: 24275173

Therapy

Meconium-stained amniotic fluid.
Gallo DM, Romero R, Bosco M, Gotsch F, Jaiman S, Jung E, Suksai M, Ramón Y Cajal CL, Yoon BH, Chaiworapongsa T
Am J Obstet Gynecol 2023 May;228(5S):S1158-S1178. Epub 2023 Apr 1 doi: 10.1016/j.ajog.2022.11.1283. PMID: 37012128Free PMC Article
Acid-Base Disorders in the Critically Ill Patient.
Achanti A, Szerlip HM
Clin J Am Soc Nephrol 2023 Jan 1;18(1):102-112. Epub 2022 Aug 23 doi: 10.2215/CJN.04500422. PMID: 35998977Free PMC Article
Sodium bicarbonate therapy for acute respiratory acidosis.
Chand R, Swenson ER, Goldfarb DS
Curr Opin Nephrol Hypertens 2021 Mar 1;30(2):223-230. doi: 10.1097/MNH.0000000000000687. PMID: 33395037
Alternatives to Rapid Sequence Intubation: Contemporary Airway Management with Ketamine.
Merelman AH, Perlmutter MC, Strayer RJ
West J Emerg Med 2019 May;20(3):466-471. Epub 2019 Apr 26 doi: 10.5811/westjem.2019.4.42753. PMID: 31123547Free PMC Article
Review of Biguanide (Metformin) Toxicity.
Wang GS, Hoyte C
J Intensive Care Med 2019 Nov-Dec;34(11-12):863-876. Epub 2018 Aug 21 doi: 10.1177/0885066618793385. PMID: 30126348

Prognosis

Prevalence of propionic acidemia in China.
Zhang Y, Peng C, Wang L, Chen S, Wang J, Tian Z, Wang C, Chen X, Zhu S, Zhang GF, Wang Y
Orphanet J Rare Dis 2023 Sep 9;18(1):281. doi: 10.1186/s13023-023-02898-w. PMID: 37689673Free PMC Article
Translational Pharmacokinetic/Pharmacodynamic Model for mRNA-3927, an Investigational Therapeutic for the Treatment of Propionic Acidemia.
Attarwala H, Lumley M, Liang M, Ivaturi V, Senn J
Nucleic Acid Ther 2023 Apr;33(2):141-147. Epub 2022 Dec 27 doi: 10.1089/nat.2022.0036. PMID: 36577040Free PMC Article
The role of the fetal biophysical profile in the management of fetal growth restriction.
Baschat AA, Galan HL, Lee W, DeVore GR, Mari G, Hobbins J, Vintzileos A, Platt LD, Manning FA
Am J Obstet Gynecol 2022 Apr;226(4):475-486. doi: 10.1016/j.ajog.2022.01.020. PMID: 35369904
Intrapartum ultrasound for the diagnosis of cephalic malpositions and malpresentations.
Gimovsky AC
Am J Obstet Gynecol MFM 2021 Nov;3(6S):100438. Epub 2021 Jul 22 doi: 10.1016/j.ajogmf.2021.100438. PMID: 34302995
Methylmalonic Acidemia.
Mahmud S, Awais Ul Hassan Shah S, Ali S
J Coll Physicians Surg Pak 2015 Jun;25(6):462-4. PMID: 26101005

Clinical prediction guides

Translational Pharmacokinetic/Pharmacodynamic Model for mRNA-3927, an Investigational Therapeutic for the Treatment of Propionic Acidemia.
Attarwala H, Lumley M, Liang M, Ivaturi V, Senn J
Nucleic Acid Ther 2023 Apr;33(2):141-147. Epub 2022 Dec 27 doi: 10.1089/nat.2022.0036. PMID: 36577040Free PMC Article
The role of the fetal biophysical profile in the management of fetal growth restriction.
Baschat AA, Galan HL, Lee W, DeVore GR, Mari G, Hobbins J, Vintzileos A, Platt LD, Manning FA
Am J Obstet Gynecol 2022 Apr;226(4):475-486. doi: 10.1016/j.ajog.2022.01.020. PMID: 35369904
Thromboelastometry Variables in Neonates with Perinatal Hypoxia.
Konstantinidi A, Sokou R, Tsantes AG, Parastatidou S, Bonovas S, Kouskouni E, Gounaris AK, Tsantes AE, Iacovidou N
Semin Thromb Hemost 2020 Jun;46(4):428-434. Epub 2020 May 21 doi: 10.1055/s-0040-1709473. PMID: 32438424
Understanding Lactatemia in Human Sepsis. Potential Impact for Early Management.
Gattinoni L, Vasques F, Camporota L, Meessen J, Romitti F, Pasticci I, Duscio E, Vassalli F, Forni LG, Payen D, Cressoni M, Zanella A, Latini R, Quintel M, Marini JJ
Am J Respir Crit Care Med 2019 Sep 1;200(5):582-589. doi: 10.1164/rccm.201812-2342OC. PMID: 30985210
Optic neuropathy in methylmalonic acidemia and propionic acidemia.
Martinez Alvarez L, Jameson E, Parry NR, Lloyd C, Ashworth JL
Br J Ophthalmol 2016 Jan;100(1):98-104. Epub 2015 Jul 24 doi: 10.1136/bjophthalmol-2015-306798. PMID: 26209586

Recent systematic reviews

Meconium-stained amniotic fluid.
Gallo DM, Romero R, Bosco M, Gotsch F, Jaiman S, Jung E, Suksai M, Ramón Y Cajal CL, Yoon BH, Chaiworapongsa T
Am J Obstet Gynecol 2023 May;228(5S):S1158-S1178. Epub 2023 Apr 1 doi: 10.1016/j.ajog.2022.11.1283. PMID: 37012128Free PMC Article
Effectiveness of intrapartum fetal surveillance to improve maternal and neonatal outcomes: a systematic review and network meta-analysis.
Al Wattar BH, Honess E, Bunnewell S, Welton NJ, Quenby S, Khan KS, Zamora J, Thangaratinam S
CMAJ 2021 Apr 6;193(14):E468-E477. doi: 10.1503/cmaj.202538. PMID: 33824144Free PMC Article
Safety and efficacy of liver transplantation for methylmalonic acidemia: A systematic review and meta-analysis.
Jiang YZ, Zhou GP, Wu SS, Kong YY, Zhu ZJ, Sun LY
Transplant Rev (Orlando) 2021 Jan;35(1):100592. Epub 2020 Dec 18 doi: 10.1016/j.trre.2020.100592. PMID: 33422927
Systematic literature review and meta-analysis on the epidemiology of propionic acidemia.
Almási T, Guey LT, Lukacs C, Csetneki K, Vokó Z, Zelei T
Orphanet J Rare Dis 2019 Feb 13;14(1):40. doi: 10.1186/s13023-018-0987-z. PMID: 30760309Free PMC Article
Extracorporeal Treatment for Salicylate Poisoning: Systematic Review and Recommendations From the EXTRIP Workgroup.
Juurlink DN, Gosselin S, Kielstein JT, Ghannoum M, Lavergne V, Nolin TD, Hoffman RS; EXTRIP Workgroup
Ann Emerg Med 2015 Aug;66(2):165-81. Epub 2015 May 15 doi: 10.1016/j.annemergmed.2015.03.031. PMID: 25986310

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    Clinical resources

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