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Abnormality of lysosomal metabolism

MedGen UID:
870881
Concept ID:
C4025342
Finding
HPO: HP:0004356

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • Abnormality of lysosomal metabolism

Conditions with this feature

Mannose 6-phosphate receptor recognition defect, Lebanese type
MedGen UID:
331911
Concept ID:
C1835134
Disease or Syndrome

Professional guidelines

PubMed

Lee CL, Chuang CK, Chiu HC, Tu RY, Lo YT, Chang YH, Lin SP, Lin HY
Drug Des Devel Ther 2022;16:143-154. Epub 2022 Jan 10 doi: 10.2147/DDDT.S219433. PMID: 35046639Free PMC Article
Donati MA, Pasquini E, Spada M, Polo G, Burlina A
Ital J Pediatr 2018 Nov 16;44(Suppl 2):126. doi: 10.1186/s13052-018-0552-3. PMID: 30442156Free PMC Article
Sahai I, Marsden D
Crit Rev Clin Lab Sci 2009;46(2):55-82. doi: 10.1080/10408360802485305. PMID: 19255915

Recent clinical studies

Etiology

Boy N, Mühlhausen C, Maier EM, Ballhausen D, Baumgartner MR, Beblo S, Burgard P, Chapman KA, Dobbelaere D, Heringer-Seifert J, Fleissner S, Grohmann-Held K, Hahn G, Harting I, Hoffmann GF, Jochum F, Karall D, Konstantopoulous V, Krawinkel MB, Lindner M, Märtner EMC, Nuoffer JM, Okun JG, Plecko B, Posset R, Sahm K, Scholl-Bürgi S, Thimm E, Walter M, Williams M, Vom Dahl S, Ziagaki A, Zschocke J, Kölker S
J Inherit Metab Dis 2023 May;46(3):482-519. Epub 2022 Nov 17 doi: 10.1002/jimd.12566. PMID: 36221165
Šterclová M
Vnitr Lek 2022 Winter;68(8):525-531. doi: 10.36290/vnl.2022.111. PMID: 36575071
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
Qiu J, Wu B, Goodman SB, Berry GJ, Goronzy JJ, Weyand CM
Front Immunol 2021;12:652771. Epub 2021 Apr 2 doi: 10.3389/fimmu.2021.652771. PMID: 33868292Free PMC Article
Parenti G, Medina DL, Ballabio A
EMBO Mol Med 2021 Feb 5;13(2):e12836. Epub 2021 Jan 18 doi: 10.15252/emmm.202012836. PMID: 33459519Free PMC Article

Diagnosis

Šterclová M
Vnitr Lek 2022 Winter;68(8):525-531. doi: 10.36290/vnl.2022.111. PMID: 36575071
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
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
Parenti G, Medina DL, Ballabio A
EMBO Mol Med 2021 Feb 5;13(2):e12836. Epub 2021 Jan 18 doi: 10.15252/emmm.202012836. PMID: 33459519Free PMC Article
Vanier MT
Orphanet J Rare Dis 2010 Jun 3;5:16. doi: 10.1186/1750-1172-5-16. PMID: 20525256Free PMC Article

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
Jeong D, Qomaladewi NP, Lee J, Park SH, Cho JY
J Invest Dermatol 2020 Sep;140(9):1691-1697. doi: 10.1016/j.jid.2019.11.023. PMID: 32800183
Issa AR, Sun J, Petitgas C, Mesquita A, Dulac A, Robin M, Mollereau B, Jenny A, Chérif-Zahar B, Birman S
Autophagy 2018;14(11):1898-1910. Epub 2018 Aug 10 doi: 10.1080/15548627.2018.1491489. PMID: 29989488Free PMC Article
Vanier MT
Orphanet J Rare Dis 2010 Jun 3;5:16. doi: 10.1186/1750-1172-5-16. PMID: 20525256Free PMC Article
Zarate YA, Hopkin RJ
Lancet 2008 Oct 18;372(9647):1427-35. doi: 10.1016/S0140-6736(08)61589-5. PMID: 18940466

Prognosis

Miglis MG, Adler CH, Antelmi E, Arnaldi D, Baldelli L, Boeve BF, Cesari M, Dall'Antonia I, Diederich NJ, Doppler K, Dušek P, Ferri R, Gagnon JF, Gan-Or Z, Hermann W, Högl B, Hu MT, Iranzo A, Janzen A, Kuzkina A, Lee JY, Leenders KL, Lewis SJG, Liguori C, Liu J, Lo C, Ehgoetz Martens KA, Nepozitek J, Plazzi G, Provini F, Puligheddu M, Rolinski M, Rusz J, Stefani A, Summers RLS, Yoo D, Zitser J, Oertel WH
Lancet Neurol 2021 Aug;20(8):671-684. doi: 10.1016/S1474-4422(21)00176-9. PMID: 34302789Free 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
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
McGovern MM, Avetisyan R, Sanson BJ, Lidove O
Orphanet J Rare Dis 2017 Feb 23;12(1):41. doi: 10.1186/s13023-017-0572-x. PMID: 28228103Free PMC Article
Vanier MT
Orphanet J Rare Dis 2010 Jun 3;5:16. doi: 10.1186/1750-1172-5-16. PMID: 20525256Free PMC Article

Clinical prediction guides

Liu Q, Wu J, Zhang X, Li X, Wu X, Zhao Y, Ren J
Cell Death Dis 2021 Jul 3;12(7):673. doi: 10.1038/s41419-021-03961-9. PMID: 34218252Free PMC Article
Cheng A, Tse KH, Chow HM, Gan Y, Song X, Ma F, Qian YXY, She W, Herrup K
Autophagy 2021 Aug;17(8):1998-2010. Epub 2020 Aug 14 doi: 10.1080/15548627.2020.1805860. PMID: 32757690Free PMC Article
Ghosh S, Dellibovi-Ragheb TA, Kerviel A, Pak E, Qiu Q, Fisher M, Takvorian PM, Bleck C, Hsu VW, Fehr AR, Perlman S, Achar SR, Straus MR, Whittaker GR, de Haan CAM, Kehrl J, Altan-Bonnet G, Altan-Bonnet N
Cell 2020 Dec 10;183(6):1520-1535.e14. Epub 2020 Oct 27 doi: 10.1016/j.cell.2020.10.039. PMID: 33157038Free PMC Article
Issa AR, Sun J, Petitgas C, Mesquita A, Dulac A, Robin M, Mollereau B, Jenny A, Chérif-Zahar B, Birman S
Autophagy 2018;14(11):1898-1910. Epub 2018 Aug 10 doi: 10.1080/15548627.2018.1491489. PMID: 29989488Free PMC Article
Vanier MT
Orphanet J Rare Dis 2010 Jun 3;5:16. doi: 10.1186/1750-1172-5-16. PMID: 20525256Free PMC Article

Recent systematic reviews

Conte F, Sam JE, Lefeber DJ, Passier R
Int J Mol Sci 2023 May 11;24(10) doi: 10.3390/ijms24108632. PMID: 37239976Free PMC Article
Song TT, Cai RS, Hu R, Xu YS, Qi BN, Xiong YA
Eur Rev Med Pharmacol Sci 2021 Feb;25(3):1641-1649. doi: 10.26355/eurrev_202102_24875. PMID: 33629334
Zhang J, Fu S, Chen W, Chen H
Medicine (Baltimore) 2021 Feb 12;100(6):e24509. doi: 10.1097/MD.0000000000024509. PMID: 33578545Free PMC Article
Giugliani R, Harmatz P, Lin SP, Scarpa M
Orphanet J Rare Dis 2020 Apr 19;15(1):97. doi: 10.1186/s13023-020-01368-x. PMID: 32306998Free PMC Article
Pantel JT, Zhao M, Mensah MA, Hajjir N, Hsieh TC, Hanani Y, Fleischer N, Kamphans T, Mundlos S, Gurovich Y, Krawitz PM
J Inherit Metab Dis 2018 May;41(3):533-539. Epub 2018 Apr 5 doi: 10.1007/s10545-018-0174-3. PMID: 29623569Free PMC Article

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