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Aciduria

MedGen UID:
488840
Concept ID:
C0278026
Finding; Finding
Synonym: Acidic urine
SNOMED CT: Aciduria (21806007)
 
HPO: HP:0012072

Definition

Excretion of urine with an acid pH, i.e., having an increased hydrogen ion concentration. [from HPO]

Conditions with this feature

Progressive sclerosing poliodystrophy
MedGen UID:
60012
Concept ID:
C0205710
Disease or Syndrome
POLG-related disorders comprise a continuum of overlapping phenotypes that were clinically defined long before their molecular basis was known. Most affected individuals have some, but not all, of the features of a given phenotype; nonetheless, the following nomenclature can assist the clinician in diagnosis and management. Onset of the POLG-related disorders ranges from infancy to late adulthood. Alpers-Huttenlocher syndrome (AHS), one of the most severe phenotypes, is characterized by childhood-onset progressive and ultimately severe encephalopathy with intractable epilepsy and hepatic failure. Childhood myocerebrohepatopathy spectrum (MCHS) presents between the first few months of life and about age three years with developmental delay or dementia, lactic acidosis, and a myopathy with failure to thrive. Other findings can include liver failure, renal tubular acidosis, pancreatitis, cyclic vomiting, and hearing loss. Myoclonic epilepsy myopathy sensory ataxia (MEMSA) now describes the spectrum of disorders with epilepsy, myopathy, and ataxia without ophthalmoplegia. MEMSA now includes the disorders previously described as spinocerebellar ataxia with epilepsy (SCAE). The ataxia neuropathy spectrum (ANS) includes the phenotypes previously referred to as mitochondrial recessive ataxia syndrome (MIRAS) and sensory ataxia neuropathy dysarthria and ophthalmoplegia (SANDO). About 90% of persons in the ANS have ataxia and neuropathy as core features. Approximately two thirds develop seizures and almost one half develop ophthalmoplegia; clinical myopathy is rare. Autosomal recessive progressive external ophthalmoplegia (arPEO) is characterized by progressive weakness of the extraocular eye muscles resulting in ptosis and ophthalmoparesis (or paresis of the extraocular muscles) without associated systemic involvement; however, caution is advised because many individuals with apparently isolated arPEO at the onset develop other manifestations of POLG-related disorders over years or decades. Of note, in the ANS spectrum the neuropathy commonly precedes the onset of PEO by years to decades. Autosomal dominant progressive external ophthalmoplegia (adPEO) typically includes a generalized myopathy and often variable degrees of sensorineural hearing loss, axonal neuropathy, ataxia, depression, parkinsonism, hypogonadism, and cataracts (in what has been called "chronic progressive external ophthalmoplegia plus," or "CPEO+").
Combined oxidative phosphorylation deficiency 36
MedGen UID:
1644927
Concept ID:
C4693722
Disease or Syndrome

Professional guidelines

PubMed

Schuurmans IME, Dimitrov B, Schröter J, Ribes A, de la Fuente RP, Zamora B, van Karnebeek CDM, Kölker S, Garanto A
J Inherit Metab Dis 2023 May;46(3):371-390. Epub 2023 Apr 16 doi: 10.1002/jimd.12608. PMID: 37020324
Hu S, Kong X
Taiwan J Obstet Gynecol 2022 Mar;61(2):290-298. doi: 10.1016/j.tjog.2022.02.017. PMID: 35361390
Wasim M, Awan FR, Khan HN, Tawab A, Iqbal M, Ayesha H
Biochem Genet 2018 Apr;56(1-2):7-21. Epub 2017 Nov 1 doi: 10.1007/s10528-017-9825-6. PMID: 29094226

Recent clinical studies

Etiology

Chakrapani A, Stojanovic J, Vara R, De Nictolis F, Spada M, Dionisi-Vici C
J Inherit Metab Dis 2023 May;46(3):466-481. Epub 2023 Apr 24 doi: 10.1002/jimd.12613. PMID: 37067856
Boy N, Mühlhausen C, Maier EM, Ballhausen D, Baumgartner MR, Beblo S, Burgard P, Chapman KA, Dobbelaere D, Heringer-Seifert J, Fleissner S, Grohmann-Held K, Hahn G, Harting I, Hoffmann GF, Jochum F, Karall D, Konstantopoulous V, Krawinkel MB, Lindner M, Märtner EMC, Nuoffer JM, Okun JG, Plecko B, Posset R, Sahm K, Scholl-Bürgi S, Thimm E, Walter M, Williams M, Vom Dahl S, Ziagaki A, Zschocke J, Kölker S
J Inherit Metab Dis 2023 May;46(3):482-519. Epub 2022 Nov 17 doi: 10.1002/jimd.12566. PMID: 36221165
Dimer NW, Schuck PF, Streck EL, Ferreira GC
An Acad Bras Cienc 2015 Aug;87(2 Suppl):1409-14. Epub 2015 Aug 4 doi: 10.1590/0001-3765201520150021. PMID: 26247153
Roujeau T, Mireau E, Bourgeois M
Handb Clin Neurol 2013;112:905-12. doi: 10.1016/B978-0-444-52910-7.00012-X. PMID: 23622300
Ogier de Baulny H, Saudubray JM
Semin Neonatol 2002 Feb;7(1):65-74. doi: 10.1053/siny.2001.0087. PMID: 12069539

Diagnosis

Hu S, Kong X
Taiwan J Obstet Gynecol 2022 Mar;61(2):290-298. doi: 10.1016/j.tjog.2022.02.017. PMID: 35361390
Pronicka E, Piekutowska-Abramczuk D, Ciara E, Trubicka J, Rokicki D, Karkucińska-Więckowska A, Pajdowska M, Jurkiewicz E, Halat P, Kosińska J, Pollak A, Rydzanicz M, Stawinski P, Pronicki M, Krajewska-Walasek M, Płoski R
J Transl Med 2016 Jun 12;14(1):174. doi: 10.1186/s12967-016-0930-9. PMID: 27290639Free PMC Article
Dimer NW, Schuck PF, Streck EL, Ferreira GC
An Acad Bras Cienc 2015 Aug;87(2 Suppl):1409-14. Epub 2015 Aug 4 doi: 10.1590/0001-3765201520150021. PMID: 26247153
Winchester S, Singh PK, Mikati MA
Handb Clin Neurol 2013;112:1213-7. doi: 10.1016/B978-0-444-52910-7.00043-X. PMID: 23622331
Auron A, Brophy PD
Pediatr Nephrol 2012 Feb;27(2):207-22. Epub 2011 Mar 23 doi: 10.1007/s00467-011-1838-5. PMID: 21431427

Therapy

Manoli I, Gebremariam A, McCoy S, Pass AR, Gagné J, Hall C, Ferry S, Van Ryzin C, Sloan JL, Sacchetti E, Catesini G, Rizzo C, Martinelli D, Spada M, Dionisi-Vici C, Venditti CP
J Inherit Metab Dis 2023 Jul;46(4):554-572. Epub 2023 Jun 6 doi: 10.1002/jimd.12636. PMID: 37243446Free PMC Article
Chakrapani A, Stojanovic J, Vara R, De Nictolis F, Spada M, Dionisi-Vici C
J Inherit Metab Dis 2023 May;46(3):466-481. Epub 2023 Apr 24 doi: 10.1002/jimd.12613. PMID: 37067856
An D, Schneller JL, Frassetto A, Liang S, Zhu X, Park JS, Theisen M, Hong SJ, Zhou J, Rajendran R, Levy B, Howell R, Besin G, Presnyak V, Sabnis S, Murphy-Benenato KE, Kumarasinghe ES, Salerno T, Mihai C, Lukacs CM, Chandler RJ, Guey LT, Venditti CP, Martini PGV
Cell Rep 2017 Dec 19;21(12):3548-3558. doi: 10.1016/j.celrep.2017.11.081. PMID: 29262333Free PMC Article
Nagamani SC, Lee B, Erez A
Mol Genet Metab 2012 Sep;107(1-2):10-4. Epub 2012 Jul 20 doi: 10.1016/j.ymgme.2012.07.009. PMID: 22841516Free PMC Article
Nagamani SC, Erez A, Lee B
Genet Med 2012 May;14(5):501-7. Epub 2012 Jan 5 doi: 10.1038/gim.2011.1. PMID: 22241104Free PMC Article

Prognosis

Schuurmans IME, Dimitrov B, Schröter J, Ribes A, de la Fuente RP, Zamora B, van Karnebeek CDM, Kölker S, Garanto A
J Inherit Metab Dis 2023 May;46(3):371-390. Epub 2023 Apr 16 doi: 10.1002/jimd.12608. PMID: 37020324
Huna-Baron R, Yahalom G, Anikster Y, Ben Zeev B, Hoffmann C, Hassin-Baer S
J Neuroophthalmol 2022 Mar 1;42(1):e147-e152. Epub 2021 Apr 14 doi: 10.1097/WNO.0000000000001249. PMID: 33870938
Winchester S, Singh PK, Mikati MA
Handb Clin Neurol 2013;112:1213-7. doi: 10.1016/B978-0-444-52910-7.00043-X. PMID: 23622331
Roujeau T, Mireau E, Bourgeois M
Handb Clin Neurol 2013;112:905-12. doi: 10.1016/B978-0-444-52910-7.00012-X. PMID: 23622300
Cornblath M, Ichord R
Semin Perinatol 2000 Apr;24(2):136-49. doi: 10.1053/sp.2000.6364. PMID: 10805169

Clinical prediction guides

Schuurmans IME, Dimitrov B, Schröter J, Ribes A, de la Fuente RP, Zamora B, van Karnebeek CDM, Kölker S, Garanto A
J Inherit Metab Dis 2023 May;46(3):371-390. Epub 2023 Apr 16 doi: 10.1002/jimd.12608. PMID: 37020324
Martinelli D, Catesini G, Greco B, Guarnera A, Parrillo C, Maines E, Longo D, Napolitano A, De Nictolis F, Cairoli S, Liccardo D, Caviglia S, Sidorina A, Olivieri G, Siri B, Bianchi R, Spagnoletti G, Dello Strologo L, Spada M, Dionisi-Vici C
J Inherit Metab Dis 2023 May;46(3):450-465. Epub 2023 Mar 15 doi: 10.1002/jimd.12599. PMID: 36861405
Posset R, Kölker S, Gleich F, Okun JG, Gropman AL, Nagamani SCS, Scharre S, Probst J, Walter ME, Hoffmann GF, Garbade SF, Zielonka M; Urea Cycle Disorders Consortium (UCDC) and the European registry and network for Intoxication type Metabolic Diseases (E-IMD) consortia study group
Mol Genet Metab 2020 Dec;131(4):390-397. Epub 2020 Nov 7 doi: 10.1016/j.ymgme.2020.10.013. PMID: 33288448Free PMC Article
Baruteau J, Diez-Fernandez C, Lerner S, Ranucci G, Gissen P, Dionisi-Vici C, Nagamani S, Erez A, Häberle J
J Inherit Metab Dis 2019 Nov;42(6):1147-1161. Epub 2019 Feb 5 doi: 10.1002/jimd.12047. PMID: 30723942
Sánchez-Manubens J, Iglesias E, Anton J
Expert Rev Clin Immunol 2019 Mar;15(3):215-220. Epub 2019 Jan 26 doi: 10.1080/1744666X.2019.1571410. PMID: 30652926

Recent systematic reviews

Elhani I, Hentgen V, Grateau G, Georgin-Lavialle S
Mol Genet Metab 2022 Jun;136(2):85-93. Epub 2022 Apr 30 doi: 10.1016/j.ymgme.2022.04.006. PMID: 35525811
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
Moorthie S, Cameron L, Sagoo GS, Bonham JR, Burton H
J Inherit Metab Dis 2014 Nov;37(6):889-98. Epub 2014 Jul 15 doi: 10.1007/s10545-014-9729-0. PMID: 25022222
Nasser M, Javaheri H, Fedorowicz Z, Noorani Z
Cochrane Database Syst Rev 2012 Feb 15;2012(2):CD006659. doi: 10.1002/14651858.CD006659.pub3. PMID: 22336821Free PMC Article
Nasser M, Javaheri H, Fedorowicz Z, Noorani Z
Cochrane Database Syst Rev 2009 Apr 15;(2):CD006659. doi: 10.1002/14651858.CD006659.pub2. PMID: 19370646

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