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

GTR
MeSH

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGVInborn disorder of pentose phosphate metabolism

Inborn disorder of pentose phosphate metabolism

Recent clinical studies

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

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