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Ganglioside accumulation

MedGen UID:
1684843
Concept ID:
C5139036
Finding
Synonym: Abnormality of ganglioside metabolism
 
HPO: HP:0004345

Definition

Defects in the lysosomal glycosidases or specific co-activators, result in accumulation of the substrates, such as glycosphingolipids, including gangliosides in GM1 gangliosidosis (Tay-Sachs disease) and GM2 gangliosidosis (Sandhoff disease). [from HPO]

Conditions with this feature

Mucolipidosis type IV
MedGen UID:
68663
Concept ID:
C0238286
Disease or Syndrome
Mucolipidosis IV (MLIV) is an ultra-rare lysosomal storage disorder characterized by severe psychomotor delay, progressive visual impairment, and achlorhydria. Individuals with MLIV typically present by the end of the first year of life with delayed developmental milestones (due to a developmental brain abnormality) and impaired vision (resulting from a combination of corneal clouding and retinal degeneration). By adolescence, all individuals with MLIV have severe visual impairment. A neurodegenerative component of MLIV has become more widely appreciated, with the majority of individuals demonstrating progressive spastic quadriparesis and loss of psychomotor skills starting in the second decade of life. About 5% of individuals have atypical MLIV, manifesting with less severe psychomotor impairment, but still exhibiting progressive retinal degeneration and achlorhydria.

Professional guidelines

PubMed

Mellon SH, Gong W, Schonemann MD
Brain Res Rev 2008 Mar;57(2):410-20. Epub 2007 Jun 12 doi: 10.1016/j.brainresrev.2007.05.012. PMID: 17629950Free PMC Article

Recent clinical studies

Etiology

Deschenes NM, Cheng C, Ryckman AE, Quinville BM, Khanal P, Mitchell M, Chen Z, Sangrar W, Gray SJ, Walia JS
Int J Mol Sci 2023 May 24;24(11) doi: 10.3390/ijms24119217. PMID: 37298170Free PMC Article
Gross AL, Gray-Edwards HL, Bebout CN, Ta NL, Nielsen K, Brunson BL, Lopez Mercado KR, Osterhoudt DE, Batista AR, Maitland S, Seyfried TN, Sena-Esteves M, Martin DR
Brain 2022 Apr 18;145(2):655-669. doi: 10.1093/brain/awab309. PMID: 34410345
Leal AF, Benincore-Flórez E, Solano-Galarza D, Garzón Jaramillo RG, Echeverri-Peña OY, Suarez DA, Alméciga-Díaz CJ, Espejo-Mojica AJ
Int J Mol Sci 2020 Aug 27;21(17) doi: 10.3390/ijms21176213. PMID: 32867370Free PMC Article
Bley AE, Giannikopoulos OA, Hayden D, Kubilus K, Tifft CJ, Eichler FS
Pediatrics 2011 Nov;128(5):e1233-41. Epub 2011 Oct 24 doi: 10.1542/peds.2011-0078. PMID: 22025593Free PMC Article
Misasi R, Dionisi S, Farilla L, Carabba B, Lenti L, Di Mario U, Dotta F
Diabetes Metab Rev 1997 Sep;13(3):163-79. doi: 10.1002/(sici)1099-0895(199709)13:3<163::aid-dmr189>3.0.co;2-z. PMID: 9307889

Diagnosis

Bley AE, Giannikopoulos OA, Hayden D, Kubilus K, Tifft CJ, Eichler FS
Pediatrics 2011 Nov;128(5):e1233-41. Epub 2011 Oct 24 doi: 10.1542/peds.2011-0078. PMID: 22025593Free PMC Article
Maegawa GH, Stockley T, Tropak M, Banwell B, Blaser S, Kok F, Giugliani R, Mahuran D, Clarke JT
Pediatrics 2006 Nov;118(5):e1550-62. Epub 2006 Oct 2 doi: 10.1542/peds.2006-0588. PMID: 17015493Free PMC Article
Gravel RA, Triggs-Raine BL, Mahuran DJ
Can J Neurol Sci 1991 Aug;18(3 Suppl):419-23. doi: 10.1017/s0317167100032583. PMID: 1834320
Purpura DP
Res Publ Assoc Res Nerv Ment Dis 1979;57:43-68. PMID: 217050
Snyder PD Jr, Krivit W, Sweeley CC
J Lipid Res 1972 Jan;13(1):128-36. PMID: 5059190

Therapy

Allende ML, Lee YT, Byrnes C, Li C, Tuymetova G, Bakir JY, Nicoli ER, James VK, Brodbelt JS, Tifft CJ, Proia RL
J Lipid Res 2023 Dec;64(12):100463. Epub 2023 Oct 21 doi: 10.1016/j.jlr.2023.100463. PMID: 37871851Free PMC Article
Nenninger A, Ben-Shlomo G, Allbaugh R, Valentine B, Snella E, Jens J, Ellinwood NM, Smith J
J Inherit Metab Dis 2023 Mar;46(2):348-357. Epub 2023 Jan 16 doi: 10.1002/jimd.12587. PMID: 36601751
Gross AL, Gray-Edwards HL, Bebout CN, Ta NL, Nielsen K, Brunson BL, Lopez Mercado KR, Osterhoudt DE, Batista AR, Maitland S, Seyfried TN, Sena-Esteves M, Martin DR
Brain 2022 Apr 18;145(2):655-669. doi: 10.1093/brain/awab309. PMID: 34410345
Leal AF, Benincore-Flórez E, Solano-Galarza D, Garzón Jaramillo RG, Echeverri-Peña OY, Suarez DA, Alméciga-Díaz CJ, Espejo-Mojica AJ
Int J Mol Sci 2020 Aug 27;21(17) doi: 10.3390/ijms21176213. PMID: 32867370Free PMC Article
Maceyka M, Milstien S, Spiegel S
FEBS J 2013 Dec;280(24):6367-72. Epub 2013 Sep 23 doi: 10.1111/febs.12505. PMID: 23992240Free PMC Article

Prognosis

Allende ML, Lee YT, Byrnes C, Li C, Tuymetova G, Bakir JY, Nicoli ER, James VK, Brodbelt JS, Tifft CJ, Proia RL
J Lipid Res 2023 Dec;64(12):100463. Epub 2023 Oct 21 doi: 10.1016/j.jlr.2023.100463. PMID: 37871851Free PMC Article
Derrick-Roberts A, Kaidonis X, Jackson MR, Liaw WC, Ding X, Ong C, Ranieri E, Sharp P, Fletcher J, Byers S
Mol Genet Metab 2020 Sep-Oct;131(1-2):197-205. Epub 2020 Jul 25 doi: 10.1016/j.ymgme.2020.07.006. PMID: 32739280
Bley AE, Giannikopoulos OA, Hayden D, Kubilus K, Tifft CJ, Eichler FS
Pediatrics 2011 Nov;128(5):e1233-41. Epub 2011 Oct 24 doi: 10.1542/peds.2011-0078. PMID: 22025593Free PMC Article
Patschan S, Chen J, Gealekman O, Krupincza K, Wang M, Shu L, Shayman JA, Goligorsky MS
Am J Physiol Renal Physiol 2008 Jan;294(1):F100-9. Epub 2007 Oct 10 doi: 10.1152/ajprenal.00261.2007. PMID: 17928415
Maegawa GH, Stockley T, Tropak M, Banwell B, Blaser S, Kok F, Giugliani R, Mahuran D, Clarke JT
Pediatrics 2006 Nov;118(5):e1550-62. Epub 2006 Oct 2 doi: 10.1542/peds.2006-0588. PMID: 17015493Free PMC Article

Clinical prediction guides

Deschenes NM, Cheng C, Ryckman AE, Quinville BM, Khanal P, Mitchell M, Chen Z, Sangrar W, Gray SJ, Walia JS
Int J Mol Sci 2023 May 24;24(11) doi: 10.3390/ijms24119217. PMID: 37298170Free PMC Article
Boland S, Swarup S, Ambaw YA, Malia PC, Richards RC, Fischer AW, Singh S, Aggarwal G, Spina S, Nana AL, Grinberg LT, Seeley WW, Surma MA, Klose C, Paulo JA, Nguyen AD, Harper JW, Walther TC, Farese RV Jr
Nat Commun 2022 Oct 7;13(1):5924. doi: 10.1038/s41467-022-33500-9. PMID: 36207292Free PMC Article
Derrick-Roberts A, Kaidonis X, Jackson MR, Liaw WC, Ding X, Ong C, Ranieri E, Sharp P, Fletcher J, Byers S
Mol Genet Metab 2020 Sep-Oct;131(1-2):197-205. Epub 2020 Jul 25 doi: 10.1016/j.ymgme.2020.07.006. PMID: 32739280
Maegawa GH, Stockley T, Tropak M, Banwell B, Blaser S, Kok F, Giugliani R, Mahuran D, Clarke JT
Pediatrics 2006 Nov;118(5):e1550-62. Epub 2006 Oct 2 doi: 10.1542/peds.2006-0588. PMID: 17015493Free PMC Article
Misasi R, Dionisi S, Farilla L, Carabba B, Lenti L, Di Mario U, Dotta F
Diabetes Metab Rev 1997 Sep;13(3):163-79. doi: 10.1002/(sici)1099-0895(199709)13:3<163::aid-dmr189>3.0.co;2-z. PMID: 9307889

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