U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Rare hereditary metabolic disease with peripheral neuropathy

MedGen UID:
1843366
Concept ID:
C5680814
Disease or Syndrome
Orphanet: ORPHA207018

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVRare hereditary metabolic disease with peripheral neuropathy

Professional guidelines

PubMed

Capovilla TM, Lalario A, Rossi M, Porcari A, Aimo A, Limongelli G, Emdin M, Merlo M, Sinagra G
Heart Fail Clin 2024 Jul;20(3):333-341. Epub 2024 Apr 12 doi: 10.1016/j.hfc.2024.03.007. PMID: 38844304
Maurer MS, Bokhari S, Damy T, Dorbala S, Drachman BM, Fontana M, Grogan M, Kristen AV, Lousada I, Nativi-Nicolau J, Cristina Quarta C, Rapezzi C, Ruberg FL, Witteles R, Merlini G
Circ Heart Fail 2019 Sep;12(9):e006075. Epub 2019 Sep 4 doi: 10.1161/CIRCHEARTFAILURE.119.006075. PMID: 31480867Free PMC Article
Donnelly JP, Hanna M
Cleve Clin J Med 2017 Dec;84(12 Suppl 3):12-26. doi: 10.3949/ccjm.84.s3.02. PMID: 29257735

Recent clinical studies

Etiology

Gillmore JD, Judge DP, Cappelli F, Fontana M, Garcia-Pavia P, Gibbs S, Grogan M, Hanna M, Hoffman J, Masri A, Maurer MS, Nativi-Nicolau J, Obici L, Poulsen SH, Rockhold F, Shah KB, Soman P, Garg J, Chiswell K, Xu H, Cao X, Lystig T, Sinha U, Fox JC; ATTRibute-CM Investigators
N Engl J Med 2024 Jan 11;390(2):132-142. doi: 10.1056/NEJMoa2305434. PMID: 38197816
Manganelli F, Fabrizi GM, Luigetti M, Mandich P, Mazzeo A, Pareyson D
Neurol Sci 2022 Dec;43(Suppl 2):595-604. Epub 2020 Nov 14 doi: 10.1007/s10072-020-04889-2. PMID: 33188616Free PMC Article
Ashrafi MR, Amanat M, Garshasbi M, Kameli R, Nilipour Y, Heidari M, Rezaei Z, Tavasoli AR
Expert Rev Neurother 2020 Jan;20(1):65-84. Epub 2019 Dec 12 doi: 10.1080/14737175.2020.1699060. PMID: 31829048
Maurer MS, Bokhari S, Damy T, Dorbala S, Drachman BM, Fontana M, Grogan M, Kristen AV, Lousada I, Nativi-Nicolau J, Cristina Quarta C, Rapezzi C, Ruberg FL, Witteles R, Merlini G
Circ Heart Fail 2019 Sep;12(9):e006075. Epub 2019 Sep 4 doi: 10.1161/CIRCHEARTFAILURE.119.006075. PMID: 31480867Free PMC Article
Ando Y, Coelho T, Berk JL, Cruz MW, Ericzon BG, Ikeda S, Lewis WD, Obici L, Planté-Bordeneuve V, Rapezzi C, Said G, Salvi F
Orphanet J Rare Dis 2013 Feb 20;8:31. doi: 10.1186/1750-1172-8-31. PMID: 23425518Free PMC Article

Diagnosis

Manganelli F, Fabrizi GM, Luigetti M, Mandich P, Mazzeo A, Pareyson D
Neurol Sci 2022 Dec;43(Suppl 2):595-604. Epub 2020 Nov 14 doi: 10.1007/s10072-020-04889-2. PMID: 33188616Free PMC Article
Griffin JM, Rosenblum H, Maurer MS
Circ Res 2021 May 14;128(10):1554-1575. Epub 2021 May 13 doi: 10.1161/CIRCRESAHA.121.318187. PMID: 33983835Free PMC Article
Maurer MS, Bokhari S, Damy T, Dorbala S, Drachman BM, Fontana M, Grogan M, Kristen AV, Lousada I, Nativi-Nicolau J, Cristina Quarta C, Rapezzi C, Ruberg FL, Witteles R, Merlini G
Circ Heart Fail 2019 Sep;12(9):e006075. Epub 2019 Sep 4 doi: 10.1161/CIRCHEARTFAILURE.119.006075. PMID: 31480867Free PMC Article
Donnelly JP, Hanna M
Cleve Clin J Med 2017 Dec;84(12 Suppl 3):12-26. doi: 10.3949/ccjm.84.s3.02. PMID: 29257735
Ando Y, Coelho T, Berk JL, Cruz MW, Ericzon BG, Ikeda S, Lewis WD, Obici L, Planté-Bordeneuve V, Rapezzi C, Said G, Salvi F
Orphanet J Rare Dis 2013 Feb 20;8:31. doi: 10.1186/1750-1172-8-31. PMID: 23425518Free PMC Article

Therapy

Saro R, Allegro V, Merlo M, Dore F, Sinagra G, Porcari A
Heart Fail Clin 2024 Jul;20(3):343-352. Epub 2024 Apr 4 doi: 10.1016/j.hfc.2024.03.005. PMID: 38844305
Capovilla TM, Lalario A, Rossi M, Porcari A, Aimo A, Limongelli G, Emdin M, Merlo M, Sinagra G
Heart Fail Clin 2024 Jul;20(3):333-341. Epub 2024 Apr 12 doi: 10.1016/j.hfc.2024.03.007. PMID: 38844304
Gillmore JD, Judge DP, Cappelli F, Fontana M, Garcia-Pavia P, Gibbs S, Grogan M, Hanna M, Hoffman J, Masri A, Maurer MS, Nativi-Nicolau J, Obici L, Poulsen SH, Rockhold F, Shah KB, Soman P, Garg J, Chiswell K, Xu H, Cao X, Lystig T, Sinha U, Fox JC; ATTRibute-CM Investigators
N Engl J Med 2024 Jan 11;390(2):132-142. doi: 10.1056/NEJMoa2305434. PMID: 38197816
Garcia-Pavia P, Aus dem Siepen F, Donal E, Lairez O, van der Meer P, Kristen AV, Mercuri MF, Michalon A, Frost RJA, Grimm J, Nitsch RM, Hock C, Kahr PC, Damy T
N Engl J Med 2023 Jul 20;389(3):239-250. Epub 2023 May 20 doi: 10.1056/NEJMoa2303765. PMID: 37212440
Griffin JM, Rosenblum H, Maurer MS
Circ Res 2021 May 14;128(10):1554-1575. Epub 2021 May 13 doi: 10.1161/CIRCRESAHA.121.318187. PMID: 33983835Free PMC Article

Prognosis

Porcari A, Razvi Y, Masi A, Patel R, Ioannou A, Rauf MU, Hutt DF, Rowczenio D, Gilbertson J, Martinez-Naharro A, Venneri L, Whelan C, Lachmann H, Wechalekar A, Quarta CC, Merlo M, Sinagra G, Hawkins PN, Fontana M, Gillmore JD
Eur J Heart Fail 2023 Apr;25(4):515-524. Epub 2023 Jan 30 doi: 10.1002/ejhf.2776. PMID: 36644836
Deneubourg C, Ramm M, Smith LJ, Baron O, Singh K, Byrne SC, Duchen MR, Gautel M, Eskelinen EL, Fanto M, Jungbluth H
Autophagy 2022 Mar;18(3):496-517. Epub 2021 Aug 19 doi: 10.1080/15548627.2021.1943177. PMID: 34130600Free PMC Article
Bart NK, Thomas L, Korczyk D, Atherton JJ, Stewart GJ, Fatkin D
Heart Lung Circ 2020 Apr;29(4):575-583. Epub 2019 Dec 17 doi: 10.1016/j.hlc.2019.11.019. PMID: 32001152
Maurer MS, Bokhari S, Damy T, Dorbala S, Drachman BM, Fontana M, Grogan M, Kristen AV, Lousada I, Nativi-Nicolau J, Cristina Quarta C, Rapezzi C, Ruberg FL, Witteles R, Merlini G
Circ Heart Fail 2019 Sep;12(9):e006075. Epub 2019 Sep 4 doi: 10.1161/CIRCHEARTFAILURE.119.006075. PMID: 31480867Free PMC Article
Chance PF, Reilly M
Curr Opin Neurol 1994 Oct;7(5):372-80. doi: 10.1097/00019052-199410000-00002. PMID: 7804455

Clinical prediction guides

Porcari A, Cappelli F, Nitsche C, Tomasoni D, Sinigiani G, Longhi S, Bordignon L, Masri A, Serenelli M, Urey M, Musumeci B, Cipriani A, Canepa M, Badr-Eslam R, Kronberger C, Chimenti C, Zampieri M, Allegro V, Razvi Y, Patel R, Ioannou A, Rauf MU, Petrie A, Whelan C, Emdin M, Metra M, Merlo M, Sinagra G, Hawkins PN, Solomon SD, Gillmore JD, Fontana M
J Am Coll Cardiol 2024 Jun 18;83(24):2411-2422. doi: 10.1016/j.jacc.2024.03.429. PMID: 38866445
Gillmore JD, Judge DP, Cappelli F, Fontana M, Garcia-Pavia P, Gibbs S, Grogan M, Hanna M, Hoffman J, Masri A, Maurer MS, Nativi-Nicolau J, Obici L, Poulsen SH, Rockhold F, Shah KB, Soman P, Garg J, Chiswell K, Xu H, Cao X, Lystig T, Sinha U, Fox JC; ATTRibute-CM Investigators
N Engl J Med 2024 Jan 11;390(2):132-142. doi: 10.1056/NEJMoa2305434. PMID: 38197816
Gentile L, Coelho T, Dispenzieri A, Conceição I, Waddington-Cruz M, Kristen A, Wixner J, Diemberger I, Gonzalez-Moreno J, Cariou E, Maurer MS, Planté-Bordeneuve V, Garcia-Pavia P, Tournev I, Gonzalez-Costello J, Duarte AG, Grogan M, Mazzeo A, Chapman D, Gupta P, Glass O, Amass L; THAOS investigators
Orphanet J Rare Dis 2023 Nov 10;18(1):350. doi: 10.1186/s13023-023-02962-5. PMID: 37946256Free PMC Article
Porcari A, Razvi Y, Masi A, Patel R, Ioannou A, Rauf MU, Hutt DF, Rowczenio D, Gilbertson J, Martinez-Naharro A, Venneri L, Whelan C, Lachmann H, Wechalekar A, Quarta CC, Merlo M, Sinagra G, Hawkins PN, Fontana M, Gillmore JD
Eur J Heart Fail 2023 Apr;25(4):515-524. Epub 2023 Jan 30 doi: 10.1002/ejhf.2776. PMID: 36644836
Bart NK, Thomas L, Korczyk D, Atherton JJ, Stewart GJ, Fatkin D
Heart Lung Circ 2020 Apr;29(4):575-583. Epub 2019 Dec 17 doi: 10.1016/j.hlc.2019.11.019. PMID: 32001152

Recent systematic reviews

Delgado D, Dabbous F, Shivappa N, Mazhar F, Wittbrodt E, Shridharmurthy D, Järbrink K
Orphanet J Rare Dis 2025 Jan 16;20(1):29. doi: 10.1186/s13023-025-03547-0. PMID: 39819351Free PMC Article
He X, Tian Z, Guan H, Zhang S
Orphanet J Rare Dis 2022 Sep 2;17(1):337. doi: 10.1186/s13023-022-02481-9. PMID: 36056432Free PMC Article
Finsterer J, Iglseder S, Wanschitz J, Topakian R, Löscher WN, Grisold W
Acta Neurol Scand 2019 Feb;139(2):92-105. Epub 2018 Oct 23 doi: 10.1111/ane.13035. PMID: 30295933

Supplemental Content

Table of contents

    Clinical resources

    Practice guidelines

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