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Abnormality of lysosomal metabolism

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

Conditions with this feature

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

Professional guidelines

PubMed

Treatment of skeletal and non-skeletal alterations of Mucopolysaccharidosis type IVA by AAV-mediated gene therapy.
Bertolin J, Sánchez V, Ribera A, Jaén ML, Garcia M, Pujol A, Sánchez X, Muñoz S, Marcó S, Pérez J, Elias G, León X, Roca C, Jimenez V, Otaegui P, Mulero F, Navarro M, Ruberte J, Bosch F
Nat Commun 2021 Sep 9;12(1):5343. doi: 10.1038/s41467-021-25697-y. PMID: 34504088Free PMC Article
Consensus clinical management guidelines for Niemann-Pick disease type C.
Geberhiwot T, Moro A, Dardis A, Ramaswami U, Sirrs S, Marfa MP, Vanier MT, Walterfang M, Bolton S, Dawson C, Héron B, Stampfer M, Imrie J, Hendriksz C, Gissen P, Crushell E, Coll MJ, Nadjar Y, Klünemann H, Mengel E, Hrebicek M, Jones SA, Ory D, Bembi B, Patterson M; International Niemann-Pick Disease Registry (INPDR)
Orphanet J Rare Dis 2018 Apr 6;13(1):50. doi: 10.1186/s13023-018-0785-7. PMID: 29625568Free PMC Article
Newborn screening.
Sahai I, Marsden D
Crit Rev Clin Lab Sci 2009;46(2):55-82. doi: 10.1080/10408360802485305. PMID: 19255915

Recent clinical studies

Etiology

Recommendations for diagnosing and managing individuals with glutaric aciduria type 1: Third revision.
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
Pulmonary storage.
Šterclová M
Vnitr Lek 2022 Winter;68(8):525-531. doi: 10.36290/vnl.2022.111. PMID: 36575071
The spectrum of neurodevelopmental, neuromuscular and neurodegenerative disorders due to defective autophagy.
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
Metabolic Control of Autoimmunity and Tissue Inflammation in Rheumatoid Arthritis.
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
The rapidly evolving view of lysosomal storage diseases.
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

Pulmonary storage.
Šterclová M
Vnitr Lek 2022 Winter;68(8):525-531. doi: 10.36290/vnl.2022.111. PMID: 36575071
The spectrum of neurodevelopmental, neuromuscular and neurodegenerative disorders due to defective autophagy.
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
Fabry Disease and the Heart: A Comprehensive Review.
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
The rapidly evolving view of lysosomal storage diseases.
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
Niemann-Pick disease type C.
Vanier MT
Orphanet J Rare Dis 2010 Jun 3;5:16. doi: 10.1186/1750-1172-5-16. PMID: 20525256Free PMC Article

Therapy

Fabry Disease and the Heart: A Comprehensive Review.
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
The Role of Autophagy in Skin Fibroblasts, Keratinocytes, Melanocytes, and Epidermal Stem Cells.
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
The lysosomal membrane protein LAMP2A promotes autophagic flux and prevents SNCA-induced Parkinson disease-like symptoms in the Drosophila brain.
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
Niemann-Pick disease type C.
Vanier MT
Orphanet J Rare Dis 2010 Jun 3;5:16. doi: 10.1186/1750-1172-5-16. PMID: 20525256Free PMC Article
Fabry's disease.
Zarate YA, Hopkin RJ
Lancet 2008 Oct 18;372(9647):1427-35. doi: 10.1016/S0140-6736(08)61589-5. PMID: 18940466

Prognosis

Biomarkers of conversion to α-synucleinopathy in isolated rapid-eye-movement sleep behaviour disorder.
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
Fabry Disease and the Heart: A Comprehensive Review.
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
Gaucher Disease in Bone: From Pathophysiology to Practice.
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
Disease manifestations and burden of illness in patients with acid sphingomyelinase deficiency (ASMD).
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
Niemann-Pick disease type C.
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

Circulating mitochondrial DNA-triggered autophagy dysfunction via STING underlies sepsis-related acute lung injury.
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
ATM loss disrupts the autophagy-lysosomal pathway.
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
β-Coronaviruses Use Lysosomes for Egress Instead of the Biosynthetic Secretory Pathway.
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
The lysosomal membrane protein LAMP2A promotes autophagic flux and prevents SNCA-induced Parkinson disease-like symptoms in the Drosophila brain.
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
Niemann-Pick disease type C.
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

Metabolic Cardiomyopathies and Cardiac Defects in Inherited Disorders of Carbohydrate Metabolism: A Systematic Review.
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
The important role of TFEB in autophagy-lysosomal pathway and autophagy-related diseases: a systematic review.
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
Exosome as potential biomarkers for gastrointestinal tumors.
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
A systematic review and meta-analysis of published cases reveals the natural disease history in multiple sulfatase deficiency.
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
Assessing the impact of the five senses on quality of life in mucopolysaccharidoses.
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

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