U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Increased level of ribose in urine

MedGen UID:
1638493
Concept ID:
C4703638
Finding
HPO: HP:0410072

Definition

An increase in the level of ribose in the urine. [from HPO]

Term Hierarchy

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).

Recent clinical studies

Etiology

Xiang J, Ma YL, Zou J, Zeng XX, Xiao X, Yu YL, Dong YT, Ran LY, Qi XL, Hong W, Gao YH, Guan ZZ
J Trace Elem Med Biol 2023 Jan;75:127088. Epub 2022 Sep 30 doi: 10.1016/j.jtemb.2022.127088. PMID: 36265321
Montes-Castro N, Alvarado-Cruz I, Torres-Sánchez L, García-Aguiar I, Barrera-Hernández A, Escamilla-Núñez C, Del Razo LM, Quintanilla-Vega B
J Trace Elem Med Biol 2019 Sep;55:110-120. Epub 2019 Jun 18 doi: 10.1016/j.jtemb.2019.06.014. PMID: 31345348
Yu L, Chen Y, Xu Y, He T, Wei Y, He R
Aging (Albany NY) 2019 Jul 15;11(14):4943-4969. doi: 10.18632/aging.102089. PMID: 31307014Free PMC Article
Wu B, Yu L, Hu P, Lu Y, Li J, Wei Y, He R
Biochim Biophys Acta Mol Cell Res 2018 Apr;1865(4):629-637. Epub 2018 Feb 2 doi: 10.1016/j.bbamcr.2018.02.001. PMID: 29410209
Seifert JG, Subudhi AW, Fu MX, Riska KL, John JC, Shecterle LM, St Cyr JA
J Med Food 2009 Jun;12(3):690-3. doi: 10.1089/jmf.2008.0065. PMID: 19627222

Diagnosis

Wu B, Yu L, Hu P, Lu Y, Li J, Wei Y, He R
Biochim Biophys Acta Mol Cell Res 2018 Apr;1865(4):629-637. Epub 2018 Feb 2 doi: 10.1016/j.bbamcr.2018.02.001. PMID: 29410209
Gelmini S, Quattrone S, Malentacchi F, Villari D, Travaglini F, Giannarini G, Della Melina A, Pazzagli M, Nicita G, Selli C, Orlando C
Clin Chem Lab Med 2007;45(7):862-6. doi: 10.1515/CCLM.2007.133. PMID: 17617028

Therapy

Xiang J, Ma YL, Zou J, Zeng XX, Xiao X, Yu YL, Dong YT, Ran LY, Qi XL, Hong W, Gao YH, Guan ZZ
J Trace Elem Med Biol 2023 Jan;75:127088. Epub 2022 Sep 30 doi: 10.1016/j.jtemb.2022.127088. PMID: 36265321
Montes-Castro N, Alvarado-Cruz I, Torres-Sánchez L, García-Aguiar I, Barrera-Hernández A, Escamilla-Núñez C, Del Razo LM, Quintanilla-Vega B
J Trace Elem Med Biol 2019 Sep;55:110-120. Epub 2019 Jun 18 doi: 10.1016/j.jtemb.2019.06.014. PMID: 31345348
Rolfo C, de Vos-Geelen J, Isambert N, Molife LR, Schellens JHM, De Grève J, Dirix L, Grundtvig-Sørensen P, Jerusalem G, Leunen K, Mau-Sørensen M, Plummer R, Learoyd M, Bannister W, Fielding A, Ravaud A
Clin Pharmacokinet 2019 Sep;58(9):1165-1174. doi: 10.1007/s40262-019-00754-4. PMID: 30877569
Han C, Lu Y, Wei Y, Wu B, Liu Y, He R
Cell Death Dis 2014 Mar 13;5(3):e1117. doi: 10.1038/cddis.2014.89. PMID: 24625976Free PMC Article
Kummar S, Chen A, Ji J, Zhang Y, Reid JM, Ames M, Jia L, Weil M, Speranza G, Murgo AJ, Kinders R, Wang L, Parchment RE, Carter J, Stotler H, Rubinstein L, Hollingshead M, Melillo G, Pommier Y, Bonner W, Tomaszewski JE, Doroshow JH
Cancer Res 2011 Sep 1;71(17):5626-34. Epub 2011 Jul 27 doi: 10.1158/0008-5472.CAN-11-1227. PMID: 21795476Free PMC Article

Prognosis

Soni H, Kaminski D, Gangaraju R, Adebiyi A
Ren Fail 2018 Nov;40(1):314-322. doi: 10.1080/0886022X.2018.1456938. PMID: 29619879Free PMC Article

Clinical prediction guides

Kim JE, Han D, Jeong JS, Moon JJ, Moon HK, Lee S, Kim YC, Yoo KD, Lee JW, Kim DK, Kwon YJ, Kim YS, Yang SH
Mol Cell Proteomics 2021;20:100037. Epub 2021 Jan 13 doi: 10.1074/mcp.RA120.002159. PMID: 33453410Free PMC Article
Montes-Castro N, Alvarado-Cruz I, Torres-Sánchez L, García-Aguiar I, Barrera-Hernández A, Escamilla-Núñez C, Del Razo LM, Quintanilla-Vega B
J Trace Elem Med Biol 2019 Sep;55:110-120. Epub 2019 Jun 18 doi: 10.1016/j.jtemb.2019.06.014. PMID: 31345348
Soni H, Kaminski D, Gangaraju R, Adebiyi A
Ren Fail 2018 Nov;40(1):314-322. doi: 10.1080/0886022X.2018.1456938. PMID: 29619879Free PMC Article
Kummar S, Chen A, Ji J, Zhang Y, Reid JM, Ames M, Jia L, Weil M, Speranza G, Murgo AJ, Kinders R, Wang L, Parchment RE, Carter J, Stotler H, Rubinstein L, Hollingshead M, Melillo G, Pommier Y, Bonner W, Tomaszewski JE, Doroshow JH
Cancer Res 2011 Sep 1;71(17):5626-34. Epub 2011 Jul 27 doi: 10.1158/0008-5472.CAN-11-1227. PMID: 21795476Free PMC Article
Snyder FF, Joyce JE, Carter-Edwards T, Joshi R, Rylance HL, Wallace RC, Nuki G
J Inherit Metab Dis 1989;12(4):390-402. doi: 10.1007/BF01802034. PMID: 2516172

Supplemental Content

Table of contents

    Clinical resources

    Practice guidelines

    • Bookshelf
      See practice and clinical guidelines in NCBI Bookshelf. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.

    Consumer resources

    Recent activity

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...