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Abnormal glycosphingolipid metabolism

MedGen UID:
870889
Concept ID:
C4025350
Finding
Synonym: Abnormality of glycosphingolipid metabolism
 
HPO: HP:0004343

Definition

An abnormality of glycosphingolipid metabolism. [from HPO]

Conditions with this feature

Sandhoff disease
MedGen UID:
11313
Concept ID:
C0036161
Disease or Syndrome
Sandhoff disease comprises a phenotypic continuum encompassing acute infantile, subacute juvenile, and late-onset disease. Although classification into these phenotypes is somewhat arbitrary, it is helpful in understanding the variation observed in the timing of disease onset, presenting manifestations, rate of progression, and life span. Acute infantile Sandhoff disease (onset age <6 months). Infants are generally normal at birth followed by progressive weakness and slowing of developmental progress, then developmental regression and severe neurologic impairment. Seizures are common. Death usually occurs between ages two and three years. Subacute juvenile Sandhoff disease (onset age 2-5 years). After attaining normal developmental milestones, developmental progress slows, followed by developmental regression and neurologic impairment (abnormal gait, dysarthria, and cognitive decline). Death (usually from aspiration) typically occurs in the early to late teens. Late-onset Sandhoff disease (onset older teen years or young adulthood). Nearly normal psychomotor development is followed by a range of neurologic findings (e.g., weakness, spasticity, dysarthria, and deficits in cerebellar function) and psychiatric findings (e.g., deficits in executive function and memory). Life expectancy is not necessarily decreased.
Combined PSAP deficiency
MedGen UID:
382151
Concept ID:
C2673635
Disease or Syndrome
Combined saposin deficiency (PSAPD), a deficiency of prosaposin and saposins A, B, C, and D, is a fatal infantile storage disorder with hepatosplenomegaly and severe neurologic disease (summary by Hulkova et al., 2001).

Professional guidelines

PubMed

Pisciotta C, Pareyson D
Neuromuscul Disord 2023 Aug;33(8):627-635. Epub 2023 Jul 4 doi: 10.1016/j.nmd.2023.07.001. PMID: 37455204
Steele CN, Nowak KL
Am J Kidney Dis 2023 May;81(5):504-506. Epub 2023 Feb 28 doi: 10.1053/j.ajkd.2022.12.010. PMID: 36863942
Perry R, Shah R, Saiedi M, Patil S, Ganesan A, Linhart A, Selvanayagam JB
JACC Cardiovasc Imaging 2019 Jul;12(7 Pt 1):1230-1242. doi: 10.1016/j.jcmg.2018.11.039. PMID: 31272606

Recent clinical studies

Etiology

Hughes D, Mikosch P, Belmatoug N, Carubbi F, Cox T, Goker-Alpan O, Kindmark A, Mistry P, Poll L, Weinreb N, Deegan P
J Bone Miner Res 2019 Jun;34(6):996-1013. Epub 2019 Jun 24 doi: 10.1002/jbmr.3734. PMID: 31233632Free PMC Article
Fang Z, Pyne S, Pyne NJ
Prog Lipid Res 2019 Apr;74:145-159. Epub 2019 Apr 2 doi: 10.1016/j.plipres.2019.04.001. PMID: 30951736
Schiffmann R
Handb Clin Neurol 2015;132:231-48. doi: 10.1016/B978-0-444-62702-5.00017-2. PMID: 26564084
Shilova N, Huflejt ME, Vuskovic M, Obukhova P, Navakouski M, Khasbiullina N, Pazynina G, Galanina O, Bazhenov A, Bovin N
Top Curr Chem 2015;366:169-81. doi: 10.1007/128_2013_469. PMID: 24037491
Coderch L, López O, de la Maza A, Parra JL
Am J Clin Dermatol 2003;4(2):107-29. doi: 10.2165/00128071-200304020-00004. PMID: 12553851

Diagnosis

Azevedo O, Cordeiro F, Gago MF, Miltenberger-Miltenyi G, Ferreira C, Sousa N, Cunha D
Int J Mol Sci 2021 Apr 23;22(9) doi: 10.3390/ijms22094434. PMID: 33922740Free PMC Article
Hughes D, Mikosch P, Belmatoug N, Carubbi F, Cox T, Goker-Alpan O, Kindmark A, Mistry P, Poll L, Weinreb N, Deegan P
J Bone Miner Res 2019 Jun;34(6):996-1013. Epub 2019 Jun 24 doi: 10.1002/jbmr.3734. PMID: 31233632Free PMC Article
Shilova N, Huflejt ME, Vuskovic M, Obukhova P, Navakouski M, Khasbiullina N, Pazynina G, Galanina O, Bazhenov A, Bovin N
Top Curr Chem 2015;366:169-81. doi: 10.1007/128_2013_469. PMID: 24037491
Teener JW
Semin Neurol 2012 Nov;32(5):512-6. Epub 2013 May 15 doi: 10.1055/s-0033-1334470. PMID: 23677659
Zarate YA, Hopkin RJ
Lancet 2008 Oct 18;372(9647):1427-35. doi: 10.1016/S0140-6736(08)61589-5. PMID: 18940466

Therapy

Azevedo O, Cordeiro F, Gago MF, Miltenberger-Miltenyi G, Ferreira C, Sousa N, Cunha D
Int J Mol Sci 2021 Apr 23;22(9) doi: 10.3390/ijms22094434. PMID: 33922740Free PMC Article
Yang H, Brown RH Jr, Wang D, Strauss KA, Gao G
Trends Mol Med 2021 Jun;27(6):520-523. Epub 2021 Mar 10 doi: 10.1016/j.molmed.2021.02.004. PMID: 33714697Free PMC Article
Schiffmann R
Pharmacol Ther 2009 Apr;122(1):65-77. Epub 2009 Feb 8 doi: 10.1016/j.pharmthera.2009.01.003. PMID: 19318041
Zarate YA, Hopkin RJ
Lancet 2008 Oct 18;372(9647):1427-35. doi: 10.1016/S0140-6736(08)61589-5. PMID: 18940466
Coderch L, López O, de la Maza A, Parra JL
Am J Clin Dermatol 2003;4(2):107-29. doi: 10.2165/00128071-200304020-00004. PMID: 12553851

Prognosis

Wei J, Wong LC, Boland S
Int J Mol Sci 2023 Dec 21;25(1) doi: 10.3390/ijms25010131. PMID: 38203300Free PMC Article
Azevedo O, Cordeiro F, Gago MF, Miltenberger-Miltenyi G, Ferreira C, Sousa N, Cunha D
Int J Mol Sci 2021 Apr 23;22(9) doi: 10.3390/ijms22094434. PMID: 33922740Free PMC Article
van Eijk M, Ferraz MJ, Boot RG, Aerts JMFG
Essays Biochem 2020 Sep 23;64(3):565-578. doi: 10.1042/EBC20190090. PMID: 32808655Free PMC Article
Hughes D, Mikosch P, Belmatoug N, Carubbi F, Cox T, Goker-Alpan O, Kindmark A, Mistry P, Poll L, Weinreb N, Deegan P
J Bone Miner Res 2019 Jun;34(6):996-1013. Epub 2019 Jun 24 doi: 10.1002/jbmr.3734. PMID: 31233632Free PMC Article
Teener JW
Semin Neurol 2012 Nov;32(5):512-6. Epub 2013 May 15 doi: 10.1055/s-0033-1334470. PMID: 23677659

Clinical prediction guides

Wei J, Wong LC, Boland S
Int J Mol Sci 2023 Dec 21;25(1) doi: 10.3390/ijms25010131. PMID: 38203300Free PMC Article
Liang JX, Chen Q, Gao W, Chen D, Qian XY, Bi JQ, Lin XC, Han BB, Liu JS
BMC Bioinformatics 2022 Dec 27;23(1):562. doi: 10.1186/s12859-022-05109-8. PMID: 36575396Free PMC Article
Hughes D, Mikosch P, Belmatoug N, Carubbi F, Cox T, Goker-Alpan O, Kindmark A, Mistry P, Poll L, Weinreb N, Deegan P
J Bone Miner Res 2019 Jun;34(6):996-1013. Epub 2019 Jun 24 doi: 10.1002/jbmr.3734. PMID: 31233632Free PMC Article
Dam DHM, Paller AS
Prog Mol Biol Transl Sci 2018;156:229-239. Epub 2018 Mar 17 doi: 10.1016/bs.pmbts.2017.12.006. PMID: 29747815Free PMC Article
Shilova N, Huflejt ME, Vuskovic M, Obukhova P, Navakouski M, Khasbiullina N, Pazynina G, Galanina O, Bazhenov A, Bovin N
Top Curr Chem 2015;366:169-81. doi: 10.1007/128_2013_469. PMID: 24037491

Recent systematic reviews

Lee SU, Kim HJ, Choi JY, Kim JK, Kim JS
Neurology 2019 Sep 10;93(11):e1085-e1092. Epub 2019 Aug 9 doi: 10.1212/WNL.0000000000008107. PMID: 31399495
Santoro JD, Lazzareschi DV, Campen CJ, Van Haren KP
J Neurol 2018 Jan;265(1):141-150. Epub 2017 Nov 24 doi: 10.1007/s00415-017-8684-8. PMID: 29177548

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