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Increased urine succinate level

MedGen UID:
1771435
Concept ID:
C5421603
Finding
HPO: HP:0033092

Definition

The concentration of succinate in the urine, normalized for urine concentration, is above the upper limit of normal. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVIncreased urine succinate level

Conditions with this feature

Fumarase deficiency
MedGen UID:
87458
Concept ID:
C0342770
Disease or Syndrome
Fumarate hydratase (FH) deficiency results in severe neonatal and early infantile encephalopathy that is characterized by poor feeding, failure to thrive, hypotonia, lethargy, and seizures. Dysmorphic facial features include frontal bossing, depressed nasal bridge, and widely spaced eyes. Many affected individuals are microcephalic. A spectrum of brain abnormalities are seen on magnetic resonance imaging, including cerebral atrophy, enlarged ventricles and generous extra-axial cerebral spinal fluid (CSF) spaces, delayed myelination for age, thinning of the corpus callosum, and an abnormally small brain stem. Brain malformations including bilateral polymicrogyria and absence of the corpus callosum can also be observed. Development is severely affected: most affected individuals are nonverbal and nonambulatory, and many die during early childhood. Less severely affected individuals with moderate cognitive impairment and long-term survival have been reported.
Leukoencephalopathy, acute reversible, with increased urinary alpha-ketoglutarate
MedGen UID:
1677730
Concept ID:
C5193068
Disease or Syndrome
Acute reversible leukoencephalopathy with increased urinary alpha-ketoglutarate (ARLIAK) is an autosomal recessive disorder characterized by acute reversible neurologic deterioration in the context of a febrile illness. The disorder is associated with transient leukoencephalopathy on brain imaging concurrent with the acute episode, as well as persistently increased excretion of dicarboxylic acids, particularly alpha-ketoglutarate (summary by Dewulf et al., 2019).
Mitochondrial complex 4 deficiency, nuclear type 4
MedGen UID:
1748100
Concept ID:
C5436683
Disease or Syndrome
Mitochondrial complex IV deficiency nuclear type 4 (MC4DN4) is an autosomal recessive multisystem metabolic disorder characterized by the onset of symptoms in infancy. Affected individuals show hypotonia, failure to thrive, and neurologic distress. Additional features include hepatomegaly, hepatic steatosis, increased serum lactate, and metabolic acidosis. Some patients may develop hypertrophic cardiomyopathy. Patient tissues show decreased levels and activity of mitochondrial respiratory complex IV. Death usually occurs in infancy (summary by Valnot et al., 2000 and Stiburek et al., 2009). For a discussion of genetic heterogeneity of mitochondrial complex IV (cytochrome c oxidase) deficiency, see 220110.
D,L-2-hydroxyglutaric aciduria
MedGen UID:
1802316
Concept ID:
C5574940
Disease or Syndrome
Combined D-2- and L-2-hydroxyglutaric aciduria (D-2-HG and L-2-HG) is an autosomal recessive neurometabolic disorder characterized by neonatal-onset encephalopathy with severe muscular weakness, intractable seizures, respiratory distress, and lack of psychomotor development resulting in early death. Brain imaging shows abnormalities including enlarged ventricles, delayed myelination, and germinal layer cysts (summary by Muntau et al., 2000). See also isolated L-2-hydroxyglutaric aciduria (236792) and isolated D-2-hydroxyglutaric aciduria (see 600721).

Professional guidelines

PubMed

Shim M, Kim JK, Bang WJ, Lee YS, Cho ST, Cho JS, Joo KJ, Hyun JS, Kim BH, Lee JB, Seo YJ, Oh CY
Investig Clin Urol 2020 Nov;61(6):600-606. Epub 2020 Sep 18 doi: 10.4111/icu.20200053. PMID: 32985146Free PMC Article
Safety Committee of Japanese Society of Anesthesiologists
J Anesth 2017 Apr;31(2):307-317. Epub 2017 Feb 28 doi: 10.1007/s00540-016-2305-z. PMID: 28246924
Gallant NM, Leydiker K, Tang H, Feuchtbaum L, Lorey F, Puckett R, Deignan JL, Neidich J, Dorrani N, Chang E, Barshop BA, Cederbaum SD, Abdenur JE, Wang RY
Mol Genet Metab 2012 May;106(1):55-61. Epub 2012 Feb 9 doi: 10.1016/j.ymgme.2012.02.007. PMID: 22424739

Recent clinical studies

Etiology

Eskandarifar A, Naghshizadian R, Tari A
Iran J Kidney Dis 2023 Jan;1(1):14-19. PMID: 36739486
Laforest-Lapointe I, Becker AB, Mandhane PJ, Turvey SE, Moraes TJ, Sears MR, Subbarao P, Sycuro LK, Azad MB, Arrieta MC
Gut Microbes 2021 Jan-Dec;13(1):1-15. doi: 10.1080/19490976.2020.1857513. PMID: 33382954Free PMC Article
Chen YH, Chen WC, Liu PL, Chen HY
Taiwan J Obstet Gynecol 2020 Mar;59(2):248-255. doi: 10.1016/j.tjog.2020.01.013. PMID: 32127146
Nickavar A, Valavi E, Safaeian B, Moosavian M
Int Urol Nephrol 2020 Apr;52(4):599-602. Epub 2019 Dec 10 doi: 10.1007/s11255-019-02355-3. PMID: 31823190
Martins RG, Gonçalves LG, Cunha N, Bugalho MJ
J Clin Endocrinol Metab 2019 Nov 1;104(11):5467-5477. doi: 10.1210/jc.2019-01101. PMID: 31504671

Diagnosis

Eskandarifar A, Naghshizadian R, Tari A
Iran J Kidney Dis 2023 Jan;1(1):14-19. PMID: 36739486
Nickavar A, Valavi E, Safaeian B, Moosavian M
Int Urol Nephrol 2020 Apr;52(4):599-602. Epub 2019 Dec 10 doi: 10.1007/s11255-019-02355-3. PMID: 31823190
Martins RG, Gonçalves LG, Cunha N, Bugalho MJ
J Clin Endocrinol Metab 2019 Nov 1;104(11):5467-5477. doi: 10.1210/jc.2019-01101. PMID: 31504671
Răşanu T, Mehedinţi-Hâncu M, Alexianu M, Mehedinţi T, Gheorghe E, Damian I
Rom J Morphol Embryol 2012;53(1):203-6. PMID: 22395524
Alderazi Y, Yeh MW, Robinson BG, Benn DE, Sywak MS, Learoyd DL, Delbridge LW, Sidhu SB
Med J Aust 2005 Aug 15;183(4):201-4. doi: 10.5694/j.1326-5377.2005.tb06997.x. PMID: 16097921

Therapy

Laforest-Lapointe I, Becker AB, Mandhane PJ, Turvey SE, Moraes TJ, Sears MR, Subbarao P, Sycuro LK, Azad MB, Arrieta MC
Gut Microbes 2021 Jan-Dec;13(1):1-15. doi: 10.1080/19490976.2020.1857513. PMID: 33382954Free PMC Article
Chen YH, Chen WC, Liu PL, Chen HY
Taiwan J Obstet Gynecol 2020 Mar;59(2):248-255. doi: 10.1016/j.tjog.2020.01.013. PMID: 32127146
Longo N, Price LB, Gappmaier E, Cantor NL, Ernst SL, Bailey C, Pasquali M
Mol Genet Metab 2017 Sep;122(1-2):51-59. Epub 2017 Jul 12 doi: 10.1016/j.ymgme.2017.07.003. PMID: 28712602Free PMC Article
Xue LM, Zhang QY, Han P, Jiang YP, Yan RD, Wang Y, Rahman K, Jia M, Han T, Qin LP
J Ethnopharmacol 2014 Mar 14;152(2):272-82. Epub 2014 Jan 18 doi: 10.1016/j.jep.2013.12.024. PMID: 24447814
Cullen NM, Wolf LR, St Clair D
Am J Emerg Med 1995 Jul;13(4):432-5. doi: 10.1016/0735-6757(95)90133-7. PMID: 7605532

Prognosis

Kocyigit I, Taheri S, Eroglu E, Sener EF, Zararsız G, Uzun I, Tufan E, Mehmetbeyoglu E, Korkmaz Bayramov K, Sipahioglu MH, Ozkul Y, Tokgoz B, Oymak O, Axelsson J
Cardiorenal Med 2019;9(6):370-381. Epub 2019 Jul 18 doi: 10.1159/000500478. PMID: 31319406
Pelantová H, Bártová S, Anýž J, Holubová M, Železná B, Maletínská L, Novák D, Lacinová Z, Šulc M, Haluzík M, Kuzma M
Anal Bioanal Chem 2016 Jan;408(2):567-78. Epub 2015 Nov 17 doi: 10.1007/s00216-015-9133-0. PMID: 26577083
Şekerci ÇA, Işbilen B, Işman F, Akbal C, Şimşek F, Tarcan T
J Urol 2014 Jan;191(1):199-205. Epub 2013 Aug 21 doi: 10.1016/j.juro.2013.08.025. PMID: 23973519
Ruha AM, Curry SC, Gerkin RD, Caldwell KL, Osterloh JD, Wax PM
Arch Pathol Lab Med 2009 Jan;133(1):87-92. doi: 10.5858/133.1.87. PMID: 19123743
Tullus K, Fituri O, Linné T, Escobar-Billing R, Wikstad I, Karlsson A, Burman LG, Wretlind B, Brauner A
Pediatr Radiol 1994;24(7):513-5. doi: 10.1007/BF02015016. PMID: 7885789

Clinical prediction guides

Kumari S, Kumaran SS, Goyal V, Sharma RK, Sinha N, Dwivedi SN, Srivastava AK, Jagannathan NR
Clin Chim Acta 2020 Nov;510:442-449. Epub 2020 Aug 10 doi: 10.1016/j.cca.2020.08.005. PMID: 32791135
Longo N, Price LB, Gappmaier E, Cantor NL, Ernst SL, Bailey C, Pasquali M
Mol Genet Metab 2017 Sep;122(1-2):51-59. Epub 2017 Jul 12 doi: 10.1016/j.ymgme.2017.07.003. PMID: 28712602Free PMC Article
Pelantová H, Bártová S, Anýž J, Holubová M, Železná B, Maletínská L, Novák D, Lacinová Z, Šulc M, Haluzík M, Kuzma M
Anal Bioanal Chem 2016 Jan;408(2):567-78. Epub 2015 Nov 17 doi: 10.1007/s00216-015-9133-0. PMID: 26577083
Xue LM, Zhang QY, Han P, Jiang YP, Yan RD, Wang Y, Rahman K, Jia M, Han T, Qin LP
J Ethnopharmacol 2014 Mar 14;152(2):272-82. Epub 2014 Jan 18 doi: 10.1016/j.jep.2013.12.024. PMID: 24447814
Kim KJ, Pearl PL, Jensen K, Snead OC, Malaspina P, Jakobs C, Gibson KM
Antioxid Redox Signal 2011 Aug 1;15(3):691-718. Epub 2011 Apr 10 doi: 10.1089/ars.2010.3470. PMID: 20973619Free PMC Article

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