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Lysosomal storage disease

MedGen UID:
43098
•Concept ID:
C0085078
•
Disease or Syndrome
Synonyms: Disease, Lysosomal Storage; Diseases, Lysosomal Storage; Disorder, Lysosomal Enzyme; Disorders, Lysosomal Enzyme; Enzyme Disorder, Lysosomal; Enzyme Disorders, Lysosomal; Lysosomal Enzyme Disorder; Lysosomal Enzyme Disorders; Lysosomal Storage Disease; Lysosomal Storage Diseases
SNOMED CT: Lysosomal enzyme defect (23585005); Lysosomal enzyme disorder (23585005); Disorder of lysosomal enzyme (23585005)
 
Monarch Initiative: MONDO:0002561
Orphanet: ORPHA68366

Definition

A group of autosomal recessive or X-linked inherited metabolic disorders caused by defects in the function of the lysosomes. Signs and symptoms include hepatomegaly, splenomegaly, nervous system manifestations, skeletal abnormalities, and mental deterioration. Representative examples include Gaucher disease, Niemann-Pick disease, Wolman disease, and Fabry disease. [from NCI]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVLysosomal storage disease

Professional guidelines

PubMed

The diagnosis and management of Gaucher disease in pediatric patients: Where do we go from here?
Weinreb NJ, Goker-Alpan O, Kishnani PS, Longo N, Burrow TA, Bernat JA, Gupta P, Henderson N, Pedro H, Prada CE, Vats D, Pathak RR, Wright E, Ficicioglu C
Mol Genet Metab 2022 May;136(1):4-21. Epub 2022 Mar 9 doi: 10.1016/j.ymgme.2022.03.001. PMID: 35367141
Fabry Disease: The Current Treatment Landscape.
Lenders M, Brand E
Drugs 2021 Apr;81(6):635-645. Epub 2021 Mar 15 doi: 10.1007/s40265-021-01486-1. PMID: 33721270Free PMC Article
Newborn Screening for Lysosomal Storage Disorders.
Anderson S
J Pediatr Health Care 2018 May-Jun;32(3):285-294. doi: 10.1016/j.pedhc.2017.04.016. PMID: 29678259

Recent clinical studies

Etiology

Glycosphingolipid metabolism and its role in ageing and Parkinson's disease.
Wallom KL, Fernández-Suárez ME, Priestman DA, Te Vruchte D, Huebecker M, Hallett PJ, Isacson O, Platt FM
Glycoconj J 2022 Feb;39(1):39-53. Epub 2021 Nov 10 doi: 10.1007/s10719-021-10023-x. PMID: 34757540Free 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
A Review of Gaucher Disease Pathophysiology, Clinical Presentation and Treatments.
Stirnemann J, Belmatoug N, Camou F, Serratrice C, Froissart R, Caillaud C, Levade T, Astudillo L, Serratrice J, Brassier A, Rose C, Billette de Villemeur T, Berger MG
Int J Mol Sci 2017 Feb 17;18(2) doi: 10.3390/ijms18020441. PMID: 28218669Free PMC Article
Disorders of lysosomal acidification-The emerging role of v-ATPase in aging and neurodegenerative disease.
Colacurcio DJ, Nixon RA
Ageing Res Rev 2016 Dec;32:75-88. Epub 2016 May 16 doi: 10.1016/j.arr.2016.05.004. PMID: 27197071Free PMC Article
Lentiviral hematopoietic stem cell gene therapy benefits metachromatic leukodystrophy.
Biffi A, Montini E, Lorioli L, Cesani M, Fumagalli F, Plati T, Baldoli C, Martino S, Calabria A, Canale S, Benedicenti F, Vallanti G, Biasco L, Leo S, Kabbara N, Zanetti G, Rizzo WB, Mehta NA, Cicalese MP, Casiraghi M, Boelens JJ, Del Carro U, Dow DJ, Schmidt M, Assanelli A, Neduva V, Di Serio C, Stupka E, Gardner J, von Kalle C, Bordignon C, Ciceri F, Rovelli A, Roncarolo MG, Aiuti A, Sessa M, Naldini L
Science 2013 Aug 23;341(6148):1233158. Epub 2013 Jul 11 doi: 10.1126/science.1233158. PMID: 23845948

Diagnosis

Gaucher Disease for Hematologists.
Özdemir GN, Gündüz E
Turk J Haematol 2022 Jun 1;39(2):136-139. Epub 2022 Apr 20 doi: 10.4274/tjh.galenos.2021.2021.0683. PMID: 35439918Free PMC Article
The diagnosis and management of Gaucher disease in pediatric patients: Where do we go from here?
Weinreb NJ, Goker-Alpan O, Kishnani PS, Longo N, Burrow TA, Bernat JA, Gupta P, Henderson N, Pedro H, Prada CE, Vats D, Pathak RR, Wright E, Ficicioglu C
Mol Genet Metab 2022 May;136(1):4-21. Epub 2022 Mar 9 doi: 10.1016/j.ymgme.2022.03.001. PMID: 35367141
Fabry Disease: The Current Treatment Landscape.
Lenders M, Brand E
Drugs 2021 Apr;81(6):635-645. Epub 2021 Mar 15 doi: 10.1007/s40265-021-01486-1. PMID: 33721270Free PMC Article
A Review of Fabry Disease.
Chan B, Adam DN
Skin Therapy Lett 2018 Mar;23(2):4-6. PMID: 29562089
Gaucher Disease: Clinical, Biological and Therapeutic Aspects.
Dandana A, Ben Khelifa S, Chahed H, Miled A, Ferchichi S
Pathobiology 2016;83(1):13-23. Epub 2015 Nov 21 doi: 10.1159/000440865. PMID: 26588331

Therapy

Fabry Disease: The Current Treatment Landscape.
Lenders M, Brand E
Drugs 2021 Apr;81(6):635-645. Epub 2021 Mar 15 doi: 10.1007/s40265-021-01486-1. PMID: 33721270Free PMC Article
A Blood-Brain-Barrier-Penetrating Anti-human Transferrin Receptor Antibody Fusion Protein for Neuronopathic Mucopolysaccharidosis II.
Sonoda H, Morimoto H, Yoden E, Koshimura Y, Kinoshita M, Golovina G, Takagi H, Yamamoto R, Minami K, Mizoguchi A, Tachibana K, Hirato T, Takahashi K
Mol Ther 2018 May 2;26(5):1366-1374. Epub 2018 Mar 6 doi: 10.1016/j.ymthe.2018.02.032. PMID: 29606503Free PMC Article
A Review of Fabry Disease.
Chan B, Adam DN
Skin Therapy Lett 2018 Mar;23(2):4-6. PMID: 29562089
Gaucher Disease: Clinical, Biological and Therapeutic Aspects.
Dandana A, Ben Khelifa S, Chahed H, Miled A, Ferchichi S
Pathobiology 2016;83(1):13-23. Epub 2015 Nov 21 doi: 10.1159/000440865. PMID: 26588331
Lentiviral hematopoietic stem cell gene therapy benefits metachromatic leukodystrophy.
Biffi A, Montini E, Lorioli L, Cesani M, Fumagalli F, Plati T, Baldoli C, Martino S, Calabria A, Canale S, Benedicenti F, Vallanti G, Biasco L, Leo S, Kabbara N, Zanetti G, Rizzo WB, Mehta NA, Cicalese MP, Casiraghi M, Boelens JJ, Del Carro U, Dow DJ, Schmidt M, Assanelli A, Neduva V, Di Serio C, Stupka E, Gardner J, von Kalle C, Bordignon C, Ciceri F, Rovelli A, Roncarolo MG, Aiuti A, Sessa M, Naldini L
Science 2013 Aug 23;341(6148):1233158. Epub 2013 Jul 11 doi: 10.1126/science.1233158. PMID: 23845948

Prognosis

The diagnosis and management of Gaucher disease in pediatric patients: Where do we go from here?
Weinreb NJ, Goker-Alpan O, Kishnani PS, Longo N, Burrow TA, Bernat JA, Gupta P, Henderson N, Pedro H, Prada CE, Vats D, Pathak RR, Wright E, Ficicioglu C
Mol Genet Metab 2022 May;136(1):4-21. Epub 2022 Mar 9 doi: 10.1016/j.ymgme.2022.03.001. PMID: 35367141
Krabbe disease: New hope for an old disease.
Bradbury AM, Bongarzone ER, Sands MS
Neurosci Lett 2021 May 1;752:135841. Epub 2021 Mar 22 doi: 10.1016/j.neulet.2021.135841. PMID: 33766733Free 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
A Review of Gaucher Disease Pathophysiology, Clinical Presentation and Treatments.
Stirnemann J, Belmatoug N, Camou F, Serratrice C, Froissart R, Caillaud C, Levade T, Astudillo L, Serratrice J, Brassier A, Rose C, Billette de Villemeur T, Berger MG
Int J Mol Sci 2017 Feb 17;18(2) doi: 10.3390/ijms18020441. PMID: 28218669Free PMC Article
Lentiviral hematopoietic stem cell gene therapy benefits metachromatic leukodystrophy.
Biffi A, Montini E, Lorioli L, Cesani M, Fumagalli F, Plati T, Baldoli C, Martino S, Calabria A, Canale S, Benedicenti F, Vallanti G, Biasco L, Leo S, Kabbara N, Zanetti G, Rizzo WB, Mehta NA, Cicalese MP, Casiraghi M, Boelens JJ, Del Carro U, Dow DJ, Schmidt M, Assanelli A, Neduva V, Di Serio C, Stupka E, Gardner J, von Kalle C, Bordignon C, Ciceri F, Rovelli A, Roncarolo MG, Aiuti A, Sessa M, Naldini L
Science 2013 Aug 23;341(6148):1233158. Epub 2013 Jul 11 doi: 10.1126/science.1233158. PMID: 23845948

Clinical prediction guides

Brain MRI correlations with disease burden and biomarkers in Fabry disease.
Zhao Y, Zhu Y, Li F, Sun Y, Ma W, Wu Y, Zhang W, Wang Z, Yuan Y, Huang Y
J Neurol 2023 Oct;270(10):4939-4948. Epub 2023 Jun 25 doi: 10.1007/s00415-023-11826-8. PMID: 37356023Free PMC Article
N-acetyl-L-leucine for Niemann-Pick type C: a multinational double-blind randomized placebo-controlled crossover study.
Fields T, M Bremova T, Billington I, Churchill GC, Evans W, Fields C, Galione A, Kay R, Mathieson T, Martakis K, Patterson M, Platt F, Factor M, Strupp M
Trials 2023 May 29;24(1):361. doi: 10.1186/s13063-023-07399-6. PMID: 37248494Free PMC Article
Direct activation of microglia by β-glucosylceramide causes phagocytosis of neurons that exacerbates Gaucher disease.
Shimizu T, Schutt CR, Izumi Y, Tomiyasu N, Omahdi Z, Kano K, Takamatsu H, Aoki J, Bamba T, Kumanogoh A, Takao M, Yamasaki S
Immunity 2023 Feb 14;56(2):307-319.e8. Epub 2023 Feb 2 doi: 10.1016/j.immuni.2023.01.008. PMID: 36736320
The diagnosis and management of Gaucher disease in pediatric patients: Where do we go from here?
Weinreb NJ, Goker-Alpan O, Kishnani PS, Longo N, Burrow TA, Bernat JA, Gupta P, Henderson N, Pedro H, Prada CE, Vats D, Pathak RR, Wright E, Ficicioglu C
Mol Genet Metab 2022 May;136(1):4-21. Epub 2022 Mar 9 doi: 10.1016/j.ymgme.2022.03.001. PMID: 35367141
Lentiviral hematopoietic stem cell gene therapy benefits metachromatic leukodystrophy.
Biffi A, Montini E, Lorioli L, Cesani M, Fumagalli F, Plati T, Baldoli C, Martino S, Calabria A, Canale S, Benedicenti F, Vallanti G, Biasco L, Leo S, Kabbara N, Zanetti G, Rizzo WB, Mehta NA, Cicalese MP, Casiraghi M, Boelens JJ, Del Carro U, Dow DJ, Schmidt M, Assanelli A, Neduva V, Di Serio C, Stupka E, Gardner J, von Kalle C, Bordignon C, Ciceri F, Rovelli A, Roncarolo MG, Aiuti A, Sessa M, Naldini L
Science 2013 Aug 23;341(6148):1233158. Epub 2013 Jul 11 doi: 10.1126/science.1233158. PMID: 23845948

Recent systematic reviews

Prevalence of Fabry disease in patients with chronic kidney disease: A systematic review and meta-analysis.
Linares D, Luna B, Loayza E, Taboada G, Ramaswami U
Mol Genet Metab 2023 Dec;140(4):107714. Epub 2023 Oct 30 doi: 10.1016/j.ymgme.2023.107714. PMID: 37918171
Emerging links between pediatric lysosomal storage diseases and adult parkinsonism.
Ysselstein D, Shulman JM, Krainc D
Mov Disord 2019 May;34(5):614-624. Epub 2019 Feb 6 doi: 10.1002/mds.27631. PMID: 30726573Free PMC Article
Lysosomal storage disease as an etiology of nonimmune hydrops.
Gimovsky AC, Luzi P, Berghella V
Am J Obstet Gynecol 2015 Mar;212(3):281-90. Epub 2014 Oct 8 doi: 10.1016/j.ajog.2014.10.007. PMID: 25305402
Malignancies and monoclonal gammopathy in Gaucher disease; a systematic review of the literature.
Arends M, van Dussen L, Biegstraaten M, Hollak CE
Br J Haematol 2013 Jun;161(6):832-42. Epub 2013 Apr 18 doi: 10.1111/bjh.12335. PMID: 23594419
Gaucher disease: a systematic review and meta-analysis of bone complications and their response to treatment.
Piran S, Amato D
J Inherit Metab Dis 2010 Jun;33(3):271-9. Epub 2010 Mar 25 doi: 10.1007/s10545-010-9071-0. PMID: 20336376

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