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Fumaricaciduria

MedGen UID:
424826
•Concept ID:
C2936826
•
Finding
Synonym: Fumaric aciduria
 
OMIM®: 606812

Professional guidelines

PubMed

Opening Pandora's box: abnormal genetic carrier screening and need for lifetime follow-up.
Strauss TS, Boniferro E, Brockhoff E, Johnson A, Schneider E, Grubman O, Cole D, Hussain F, Ashmead G, Al-Ibraheemi Z, Brustman L
Am J Obstet Gynecol MFM 2023 Mar;5(3):100820. Epub 2022 Nov 28 doi: 10.1016/j.ajogmf.2022.100820. PMID: 36455867
Fumarate Hydratase Deficiency Should be Considered in the Differential Diagnosis of Uterine and Extrauterine Smooth Muscle Tumors of Uncertain Malignant Potential (STUMP).
Pors J, Weiel JJ, Devereaux KA, Folkins AK, Longacre TA
Int J Gynecol Pathol 2022 May 1;41(3):268-275. Epub 2021 Jun 9 doi: 10.1097/PGP.0000000000000797. PMID: 34108400
Cascade Fumarate Hydratase mutation screening allows early detection of kidney tumour: a case report.
Chan MMY, Barnicoat A, Mumtaz F, Aitchison M, Side L, Brittain H, Bates AWH, Gale DP
BMC Med Genet 2017 Jul 26;18(1):79. doi: 10.1186/s12881-017-0436-1. PMID: 28747166Free PMC Article

Recent clinical studies

Etiology

Fumarate Hydratase Variants and Their Association With Paraganglioma/Pheochromocytoma.
Zavoshi S, Lu E, Boutros PC, Zhang L, Harari A, Hatchell KE, Nielsen SM, Esplin ED, Ouyang K, Nykamp K, Wilde B, Christofk H, Shuch B
Urology 2023 Jun;176:106-114. Epub 2023 Feb 10 doi: 10.1016/j.urology.2022.11.053. PMID: 36773955
Fumarate Hydratase and S-(2-Succinyl)-Cysteine Immunohistochemistry Shows Evidence of Fumarate Hydratase Deficiency in 2% of Uterine Leiomyosarcomas: A Cohort Study of 348 Tumors.
Chapel DB, Sharma A, Maccio L, Bragantini E, Zannoni GF, Yuan L, Quade BJ, Parra-Herran C, Nucci MR
Int J Gynecol Pathol 2023 Mar 1;42(2):120-135. Epub 2022 Dec 5 doi: 10.1097/PGP.0000000000000918. PMID: 36729957
MR Spectroscopy for Detecting Fumarate Hydratase Deficiency in Hereditary Leiomyomatosis and Renal Cell Carcinoma Syndrome.
Wu G, Liu G, Wang J, Pan S, Luo Y, Xu Y, Kong W, Sun P, Xu J, Xue W, Zhang J
Radiology 2022 Dec;305(3):631-639. Epub 2022 Aug 9 doi: 10.1148/radiol.212984. PMID: 35943337
Fumarase Deficiency: A Case With a New Pathogenic Mutation and a Review of the Literature.
Peetsold M, Goorden S, Breuning M, Williams M, Bakker J, Jacobs E, Hussaarts-Odijk L, Peeters C
J Child Neurol 2021 Mar;36(4):310-323. Epub 2020 Oct 14 doi: 10.1177/0883073820962931. PMID: 33052056
Cascade Fumarate Hydratase mutation screening allows early detection of kidney tumour: a case report.
Chan MMY, Barnicoat A, Mumtaz F, Aitchison M, Side L, Brittain H, Bates AWH, Gale DP
BMC Med Genet 2017 Jul 26;18(1):79. doi: 10.1186/s12881-017-0436-1. PMID: 28747166Free PMC Article

Diagnosis

MR Spectroscopy for Detecting Fumarate Hydratase Deficiency in Hereditary Leiomyomatosis and Renal Cell Carcinoma Syndrome.
Wu G, Liu G, Wang J, Pan S, Luo Y, Xu Y, Kong W, Sun P, Xu J, Xue W, Zhang J
Radiology 2022 Dec;305(3):631-639. Epub 2022 Aug 9 doi: 10.1148/radiol.212984. PMID: 35943337
Uterine leiomyoma with fumarate hydratase deficiency: A case report.
Huang Y, Zhou Y, Chen X, Fang Q, Cai H, Xie M, Xing Y
Medicine (Baltimore) 2021 Dec 10;100(49):e28142. doi: 10.1097/MD.0000000000028142. PMID: 34889279Free PMC Article
Germline Whole-Gene Deletion of FH Diagnosed from Tumor Profiling.
Ueki A, Sugano K, Misu K, Aimono E, Nakamura K, Tanishima S, Tanaka N, Mikami S, Hirasawa A, Ando M, Yoshida T, Oya M, Nishihara H, Kosaki K
Int J Mol Sci 2021 Jul 26;22(15) doi: 10.3390/ijms22157962. PMID: 34360727Free PMC Article
Fumaric aciduria: an overview and the first Brazilian case report.
Allegri G, Fernandes MJ, Scalco FB, Correia P, Simoni RE, Llerena JC Jr, de Oliveira ML
J Inherit Metab Dis 2010 Aug;33(4):411-9. Epub 2010 Jun 15 doi: 10.1007/s10545-010-9134-2. PMID: 20549362
Fumaric aciduria: mild phenotype in a 8-year-old girl with novel mutations.
Maradin M, Fumić K, Hansikova H, Tesarova M, Wenchich L, Dorner S, Sarnavka V, Zeman J, Barić I
J Inherit Metab Dis 2006 Oct;29(5):683. Epub 2006 Aug 5 doi: 10.1007/s10545-006-0321-0. PMID: 16972175

Therapy

Fumarate Hydratase-Deficient Leiomyoma of the Uterine Corpus: Comparative Morphologic Analysis of Protein-Deficient Tumors With and Without Pathogenic Germline Fumarate Hydratase Gene Mutations.
Shi W, Liu Y, Aisagbonhi O, Roma AA, Hasteh F, Zare SY, Fadare O
Int J Surg Pathol 2024 Apr;32(2):340-355. Epub 2023 Jun 13 doi: 10.1177/10668969231180285. PMID: 37312573
Mild fumarase deficiency and a trial of low protein diet.
Kimonis VE, Steller J, Sahai I, Grange DK, Shoemaker J, Zelaya BM, Mandell R, Shih K, Shih V
Mol Genet Metab 2012 Sep;107(1-2):241-2. Epub 2012 Apr 20 doi: 10.1016/j.ymgme.2012.04.010. PMID: 22595425
Defective activation of the pyruvate dehydrogenase complex in subacute necrotizing encephalomyelopathy (Leigh disease).
DeVivo DC, Haymond MW, Obert KA, Nelson JS, Pagliara AS
Ann Neurol 1979 Dec;6(6):483-94. doi: 10.1002/ana.410060605. PMID: 119480

Prognosis

Fumarate Hydratase Deficiency Should be Considered in the Differential Diagnosis of Uterine and Extrauterine Smooth Muscle Tumors of Uncertain Malignant Potential (STUMP).
Pors J, Weiel JJ, Devereaux KA, Folkins AK, Longacre TA
Int J Gynecol Pathol 2022 May 1;41(3):268-275. Epub 2021 Jun 9 doi: 10.1097/PGP.0000000000000797. PMID: 34108400
Germline Whole-Gene Deletion of FH Diagnosed from Tumor Profiling.
Ueki A, Sugano K, Misu K, Aimono E, Nakamura K, Tanishima S, Tanaka N, Mikami S, Hirasawa A, Ando M, Yoshida T, Oya M, Nishihara H, Kosaki K
Int J Mol Sci 2021 Jul 26;22(15) doi: 10.3390/ijms22157962. PMID: 34360727Free PMC Article
Fumarate hydratase (FH) deficiency in uterine leiomyomas: recognition by histological features versus blind immunoscreening.
Siegler L, Erber R, Burghaus S, Brodkorb T, Wachter D, Wilkinson N, Bolton J, Stringfellow H, Haller F, Beckmann MW, Hartmann A, Agaimy A
Virchows Arch 2018 May;472(5):789-796. Epub 2018 Jan 13 doi: 10.1007/s00428-018-2292-6. PMID: 29332133
Mild clinical presentation and prolonged survival of a patient with fumarase deficiency due to the combination of a known and a novel mutation in FH gene.
Ezgu F, Krejci P, Wilcox WR
Gene 2013 Jul 25;524(2):403-6. Epub 2013 Apr 20 doi: 10.1016/j.gene.2013.03.026. PMID: 23612258
Clinical and biochemical heterogeneity associated with fumarase deficiency.
Ottolenghi C, Hubert L, Allanore Y, Brassier A, Altuzarra C, Mellot-Draznieks C, Bekri S, Goldenberg A, Veyrieres S, Boddaert N, Barbier V, Valayannopoulos V, Slama A, Chrétien D, Ricquier D, Marret S, Frebourg T, Rabier D, Munnich A, de Keyzer Y, Toulhoat H, de Lonlay P
Hum Mutat 2011 Sep;32(9):1046-52. Epub 2011 Jul 12 doi: 10.1002/humu.21534. PMID: 21560188

Clinical prediction guides

Detailed Morphologic and Immunohistochemical Characterization of Myomectomy and Hysterectomy Specimens From Women With Hereditary Leiomyomatosis and Renal Cell Carcinoma Syndrome (HLRCC).
Chan E, Rabban JT, Mak J, Zaloudek C, Garg K
Am J Surg Pathol 2019 Sep;43(9):1170-1179. doi: 10.1097/PAS.0000000000001293. PMID: 31162287
Fumarate hydratase (FH) deficiency in uterine leiomyomas: recognition by histological features versus blind immunoscreening.
Siegler L, Erber R, Burghaus S, Brodkorb T, Wachter D, Wilkinson N, Bolton J, Stringfellow H, Haller F, Beckmann MW, Hartmann A, Agaimy A
Virchows Arch 2018 May;472(5):789-796. Epub 2018 Jan 13 doi: 10.1007/s00428-018-2292-6. PMID: 29332133
Clinical and biochemical heterogeneity associated with fumarase deficiency.
Ottolenghi C, Hubert L, Allanore Y, Brassier A, Altuzarra C, Mellot-Draznieks C, Bekri S, Goldenberg A, Veyrieres S, Boddaert N, Barbier V, Valayannopoulos V, Slama A, Chrétien D, Ricquier D, Marret S, Frebourg T, Rabier D, Munnich A, de Keyzer Y, Toulhoat H, de Lonlay P
Hum Mutat 2011 Sep;32(9):1046-52. Epub 2011 Jul 12 doi: 10.1002/humu.21534. PMID: 21560188
Fumaric aciduria: an overview and the first Brazilian case report.
Allegri G, Fernandes MJ, Scalco FB, Correia P, Simoni RE, Llerena JC Jr, de Oliveira ML
J Inherit Metab Dis 2010 Aug;33(4):411-9. Epub 2010 Jun 15 doi: 10.1007/s10545-010-9134-2. PMID: 20549362
Fumaric aciduria: mild phenotype in a 8-year-old girl with novel mutations.
Maradin M, Fumić K, Hansikova H, Tesarova M, Wenchich L, Dorner S, Sarnavka V, Zeman J, Barić I
J Inherit Metab Dis 2006 Oct;29(5):683. Epub 2006 Aug 5 doi: 10.1007/s10545-006-0321-0. PMID: 16972175

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