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Inborn disorder of pentose phosphate metabolism

MedGen UID:
1842861
•Concept ID:
C5681279
•
Disease or Syndrome
Synonyms: disorder of pentose phosphate metabolism; Disorder of pentose phosphate metabolism; inborn disorder of pentose phosphate metabolism
 
Monarch Initiative: MONDO:0019231
Orphanet: ORPHA79186

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVInborn disorder of pentose phosphate metabolism

Recent clinical studies

Etiology

Elevated Erythritol: A Marker of Metabolic Dysregulation or Contributor to the Pathogenesis of Cardiometabolic Disease?
Mazi TA, Stanhope KL
Nutrients 2023 Sep 16;15(18) doi: 10.3390/nu15184011. PMID: 37764794Free PMC Article
Clinical, biochemical, and molecular overview of transaldolase deficiency and evaluation of the endocrine function: Update of 34 patients.
Williams M, Valayannopoulos V, Altassan R, Chung WK, Heijboer AC, Keng WT, Lapatto R, McClean P, Mulder MF, Tylki-Szymańska A, Walenkamp ME, Alfadhel M, Alakeel H, Salomons GS, Eyaid W, Wamelink MMC
J Inherit Metab Dis 2019 Jan;42(1):147-158. doi: 10.1002/jimd.12036. PMID: 30740741
Nephrological abnormalities in patients with transaldolase deficiency.
Loeffen YG, Biebuyck N, Wamelink MM, Jakobs C, Mulder MF, Tylki-Szymańska A, Fung CW, Valayannopoulos V, Bökenkamp A
Nephrol Dial Transplant 2012 Aug;27(8):3224-7. Epub 2012 Apr 17 doi: 10.1093/ndt/gfs061. PMID: 22510381
Clinical approach to treatable inborn metabolic diseases: an introduction.
Saudubray JM, Sedel F, Walter JH
J Inherit Metab Dis 2006 Apr-Jun;29(2-3):261-74. doi: 10.1007/s10545-006-0358-0. PMID: 16763886
A logical approach to the investigation of red cell enzymopathies.
Lestas AN, Bellingham AJ
Blood Rev 1990 Sep;4(3):148-57. doi: 10.1016/0268-960x(90)90042-q. PMID: 2245250

Diagnosis

Untargeted metabolomics as an unbiased approach to the diagnosis of inborn errors of metabolism of the non-oxidative branch of the pentose phosphate pathway.
Shayota BJ, Donti TR, Xiao J, Gijavanekar C, Kennedy AD, Hubert L, Rodan L, Vanderpluym C, Nowak C, Bjornsson HT, Ganetzky R, Berry GT, Pappan KL, Sutton VR, Sun Q, Elsea SH
Mol Genet Metab 2020 Sep-Oct;131(1-2):147-154. Epub 2020 Aug 5 doi: 10.1016/j.ymgme.2020.07.013. PMID: 32828637Free PMC Article
Clinical, biochemical, and molecular overview of transaldolase deficiency and evaluation of the endocrine function: Update of 34 patients.
Williams M, Valayannopoulos V, Altassan R, Chung WK, Heijboer AC, Keng WT, Lapatto R, McClean P, Mulder MF, Tylki-Szymańska A, Walenkamp ME, Alfadhel M, Alakeel H, Salomons GS, Eyaid W, Wamelink MMC
J Inherit Metab Dis 2019 Jan;42(1):147-158. doi: 10.1002/jimd.12036. PMID: 30740741
Further Delineation of Ribose-5-phosphate Isomerase Deficiency: Report of a Third Case.
Brooks SS, Anderson S, Bhise V, Botti C
J Child Neurol 2018 Oct;33(12):784-787. Epub 2018 Aug 8 doi: 10.1177/0883073818789316. PMID: 30088433
Clinical approach to treatable inborn metabolic diseases: an introduction.
Saudubray JM, Sedel F, Walter JH
J Inherit Metab Dis 2006 Apr-Jun;29(2-3):261-74. doi: 10.1007/s10545-006-0358-0. PMID: 16763886
A logical approach to the investigation of red cell enzymopathies.
Lestas AN, Bellingham AJ
Blood Rev 1990 Sep;4(3):148-57. doi: 10.1016/0268-960x(90)90042-q. PMID: 2245250

Prognosis

Multi-omics in classical galactosemia: Evidence for the involvement of multiple metabolic pathways.
Hermans ME, van Weeghel M, Vaz FM, Ferdinandusse S, Hollak CEM, Huidekoper HH, Janssen MCH, van Kuilenburg ABP, Pras-Raves ML, Wamelink MMC, Wanders RJA, Welsink-Karssies MM, Bosch AM
J Inherit Metab Dis 2022 Nov;45(6):1094-1105. Epub 2022 Aug 25 doi: 10.1002/jimd.12548. PMID: 36053831
Clinical, biochemical, and molecular overview of transaldolase deficiency and evaluation of the endocrine function: Update of 34 patients.
Williams M, Valayannopoulos V, Altassan R, Chung WK, Heijboer AC, Keng WT, Lapatto R, McClean P, Mulder MF, Tylki-Szymańska A, Walenkamp ME, Alfadhel M, Alakeel H, Salomons GS, Eyaid W, Wamelink MMC
J Inherit Metab Dis 2019 Jan;42(1):147-158. doi: 10.1002/jimd.12036. PMID: 30740741
Further Delineation of Ribose-5-phosphate Isomerase Deficiency: Report of a Third Case.
Brooks SS, Anderson S, Bhise V, Botti C
J Child Neurol 2018 Oct;33(12):784-787. Epub 2018 Aug 8 doi: 10.1177/0883073818789316. PMID: 30088433
Transaldolase deficiency: report of 12 new cases and further delineation of the phenotype.
Eyaid W, Al Harbi T, Anazi S, Wamelink MM, Jakobs C, Al Salammah M, Al Balwi M, Alfadhel M, Alkuraya FS
J Inherit Metab Dis 2013 Nov;36(6):997-1004. Epub 2013 Jan 12 doi: 10.1007/s10545-012-9577-8. PMID: 23315216

Clinical prediction guides

Multi-omics in classical galactosemia: Evidence for the involvement of multiple metabolic pathways.
Hermans ME, van Weeghel M, Vaz FM, Ferdinandusse S, Hollak CEM, Huidekoper HH, Janssen MCH, van Kuilenburg ABP, Pras-Raves ML, Wamelink MMC, Wanders RJA, Welsink-Karssies MM, Bosch AM
J Inherit Metab Dis 2022 Nov;45(6):1094-1105. Epub 2022 Aug 25 doi: 10.1002/jimd.12548. PMID: 36053831
Transaldolase deficiency: report of 12 new cases and further delineation of the phenotype.
Eyaid W, Al Harbi T, Anazi S, Wamelink MM, Jakobs C, Al Salammah M, Al Balwi M, Alfadhel M, Alkuraya FS
J Inherit Metab Dis 2013 Nov;36(6):997-1004. Epub 2013 Jan 12 doi: 10.1007/s10545-012-9577-8. PMID: 23315216
Glycogenotic hepatocellular carcinoma with glycogen-ground-glass hepatocytes: a heuristically highly relevant phenotype.
Bannasch P
World J Gastroenterol 2012 Dec 14;18(46):6701-8. doi: 10.3748/wjg.v18.i46.6701. PMID: 23239906Free PMC Article

Recent systematic reviews

Metabolic Cardiomyopathies and Cardiac Defects in Inherited Disorders of Carbohydrate Metabolism: A Systematic Review.
Conte F, Sam JE, Lefeber DJ, Passier R
Int J Mol Sci 2023 May 11;24(10) doi: 10.3390/ijms24108632. PMID: 37239976Free PMC Article

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