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METACHROMATIC LEUKODYSTROPHY, SEVERE

MedGen UID:
865531
Concept ID:
C4017094
Finding
OMIM®: 607574

Professional guidelines

PubMed

Coulombe B, Chapleau A, Macintosh J, Durcan TM, Poitras C, Moursli YA, Faubert D, Pinard M, Bernard G
Biomolecules 2024 Jul 17;14(7) doi: 10.3390/biom14070857. PMID: 39062571Free PMC Article
Armstrong N, Olaye A, Noake C, Pang F
Orphanet J Rare Dis 2023 Aug 29;18(1):248. doi: 10.1186/s13023-023-02814-2. PMID: 37644601Free PMC Article
Dangouloff T, Boemer F, Servais L
Neuromuscul Disord 2021 Oct;31(10):1070-1080. Epub 2021 Jul 28 doi: 10.1016/j.nmd.2021.07.008. PMID: 34620514

Curated

Leukodystrophies in Children: Diagnosis, Care, and Treatment, Pediatrics (2021) 148 (3): e2021053126.

Recent clinical studies

Etiology

Coulombe B, Chapleau A, Macintosh J, Durcan TM, Poitras C, Moursli YA, Faubert D, Pinard M, Bernard G
Biomolecules 2024 Jul 17;14(7) doi: 10.3390/biom14070857. PMID: 39062571Free PMC Article
Armstrong N, Olaye A, Noake C, Pang F
Orphanet J Rare Dis 2023 Aug 29;18(1):248. doi: 10.1186/s13023-023-02814-2. PMID: 37644601Free PMC Article
Trinidad M, Hong X, Froelich S, Daiker J, Sacco J, Nguyen HP, Campagna M, Suhr D, Suhr T, LeBowitz JH, Gelb MH, Clark WT
Genome Biol 2023 Jul 21;24(1):172. doi: 10.1186/s13059-023-03001-z. PMID: 37480112Free PMC Article
Dangouloff T, Boemer F, Servais L
Neuromuscul Disord 2021 Oct;31(10):1070-1080. Epub 2021 Jul 28 doi: 10.1016/j.nmd.2021.07.008. PMID: 34620514
Alvarez-Leal M, Contreras-Hernández D, Chávez A, Diaz-Contreras JA, Careaga-Olivares J, Zúñiga-Charles MA, Reynoso MC, Hernández-Téllez A
Am J Hum Biol 2001 May-Jun;13(3):297-300. doi: 10.1002/ajhb.1052. PMID: 11460894

Diagnosis

Trinidad M, Hong X, Froelich S, Daiker J, Sacco J, Nguyen HP, Campagna M, Suhr D, Suhr T, LeBowitz JH, Gelb MH, Clark WT
Genome Biol 2023 Jul 21;24(1):172. doi: 10.1186/s13059-023-03001-z. PMID: 37480112Free PMC Article
Dangouloff T, Boemer F, Servais L
Neuromuscul Disord 2021 Oct;31(10):1070-1080. Epub 2021 Jul 28 doi: 10.1016/j.nmd.2021.07.008. PMID: 34620514
Ahn H, Seo GH, Keum C, Heo SH, Kim T, Choi J, Yum MS, Lee BH
Brain Dev 2020 May;42(5):414-417. Epub 2020 Feb 26 doi: 10.1016/j.braindev.2020.02.003. PMID: 32113700
Guaraldi P, Donadio V, Capellari S, Contin M, Casadio MC, Montagna P, Liguori R, Cortelli P
Auton Neurosci 2011 Jan 20;159(1-2):123-6. Epub 2010 Aug 16 doi: 10.1016/j.autneu.2010.07.011. PMID: 20719577
Miller RG
Neurol Clin 1985 Aug;3(3):543-56. PMID: 2413343

Therapy

Beerepoot S, Boelens JJ, Lindemans C, de Witte MA, Nierkens S, Vrancken AFJE, van der Knaap MS, Bugiani M, Wolf NI
J Neurol 2024 Jul;271(7):4028-4038. Epub 2024 Apr 2 doi: 10.1007/s00415-024-12322-3. PMID: 38564053Free PMC Article
Adang LA, Sevagamoorthy A, Sherbini O, Fraser JL, Bonkowsky JL, Gavazzi F, D'Aiello R, Modesti NB, Yu E, Mutua S, Kotes E, Shults J, Vincent A, Emrick LT, Keller S, Van Haren KP, Woidill S, Barcelos I, Pizzino A, Schmidt JL, Eichler F, Fatemi A, Vanderver A
Mol Genet Metab 2024 May;142(1):108453. Epub 2024 Mar 18 doi: 10.1016/j.ymgme.2024.108453. PMID: 38522179Free PMC Article
Í Dali C, Groeschel S, Moldovan M, Farah MH, Krägeloh-Mann I, Wasilewski M, Li J, Barton N, Krarup C
Ann Clin Transl Neurol 2021 Jan;8(1):66-80. Epub 2020 Dec 17 doi: 10.1002/acn3.51254. PMID: 33332761Free PMC Article
Poletti V, Biffi A
Hum Gene Ther 2019 Oct;30(10):1222-1235. Epub 2019 Sep 10 doi: 10.1089/hum.2019.190. PMID: 31397176
Eichler F, Van Haren K
Pediatr Neurol 2007 Oct;37(4):235-44. doi: 10.1016/j.pediatrneurol.2007.06.011. PMID: 17903666

Prognosis

Trinidad M, Hong X, Froelich S, Daiker J, Sacco J, Nguyen HP, Campagna M, Suhr D, Suhr T, LeBowitz JH, Gelb MH, Clark WT
Genome Biol 2023 Jul 21;24(1):172. doi: 10.1186/s13059-023-03001-z. PMID: 37480112Free PMC Article
Feldmann J, Martin P, Bender B, Laugwitz L, Zizmare L, Trautwein C, Krägeloh-Mann I, Klose U, Groeschel S
Neuroimage Clin 2023;37:103296. Epub 2022 Dec 20 doi: 10.1016/j.nicl.2022.103296. PMID: 36563646Free PMC Article
Kolevzon A, Delaby E, Berry-Kravis E, Buxbaum JD, Betancur C
Mol Autism 2019;10:50. Epub 2019 Dec 24 doi: 10.1186/s13229-019-0291-3. PMID: 31879555Free PMC Article
Eichler F, Van Haren K
Pediatr Neurol 2007 Oct;37(4):235-44. doi: 10.1016/j.pediatrneurol.2007.06.011. PMID: 17903666
Miller RG
Neurol Clin 1985 Aug;3(3):543-56. PMID: 2413343

Clinical prediction guides

Riedel A, Faul C, Reuss K, Schröder JC, Lang PJ, Lengerke C, Weissert N, Hengel H, Gröschel S, Schoels L, Bethge WA
Blood Adv 2024 Mar 26;8(6):1504-1508. doi: 10.1182/bloodadvances.2023011836. PMID: 38330194Free PMC Article
Armstrong N, Olaye A, Noake C, Pang F
Orphanet J Rare Dis 2023 Aug 29;18(1):248. doi: 10.1186/s13023-023-02814-2. PMID: 37644601Free PMC Article
Trinidad M, Hong X, Froelich S, Daiker J, Sacco J, Nguyen HP, Campagna M, Suhr D, Suhr T, LeBowitz JH, Gelb MH, Clark WT
Genome Biol 2023 Jul 21;24(1):172. doi: 10.1186/s13059-023-03001-z. PMID: 37480112Free PMC Article
Amedick LB, Martin P, Beschle J, Strölin M, Wilke M, Wolf N, Pouwels P, Hagberg G, Klose U, Naegele T, Kraegeloh-Mann I, Groeschel S
Neuropediatrics 2023 Aug;54(4):244-252. Epub 2023 Apr 13 doi: 10.1055/a-2073-4178. PMID: 37054976Free PMC Article
Kolevzon A, Delaby E, Berry-Kravis E, Buxbaum JD, Betancur C
Mol Autism 2019;10:50. Epub 2019 Dec 24 doi: 10.1186/s13229-019-0291-3. PMID: 31879555Free PMC Article

Recent systematic reviews

Armstrong N, Olaye A, Noake C, Pang F
Orphanet J Rare Dis 2023 Aug 29;18(1):248. doi: 10.1186/s13023-023-02814-2. PMID: 37644601Free PMC Article
Schlotawa L, Preiskorn J, Ahrens-Nicklas R, Schiller S, Adang LA, Gärtner J, Friede T
J Inherit Metab Dis 2020 Nov;43(6):1288-1297. Epub 2020 Jul 22 doi: 10.1002/jimd.12282. PMID: 32621519
Kolevzon A, Delaby E, Berry-Kravis E, Buxbaum JD, Betancur C
Mol Autism 2019;10:50. Epub 2019 Dec 24 doi: 10.1186/s13229-019-0291-3. PMID: 31879555Free PMC Article

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.

    Curated

    • AAP, 2021
      Leukodystrophies in Children: Diagnosis, Care, and Treatment, Pediatrics (2021) 148 (3): e2021053126.

    Consumer resources

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