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Lysosomal Storage Diseases, Nervous System

MedGen UID:: 148380
•Concept ID:: C0751738
•: Disease or Syndrome

Synonyms:

Lysosomal Enzyme Disorders, Nervous System; Nervous System Lysosomal Enzyme Disorders; Nervous System Lysosomal Storage Diseases

Definition

A group of enzymatic disorders affecting the nervous system and to a variable degree the skeletal system, lymphoreticular system, and other organs. The conditions are marked by an abnormal accumulation of catabolic material within lysosomes. [from MeSH]

Term Hierarchy

GTR
MeSH

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGVLysosomal Storage Diseases, Nervous System

Congenital, Hereditary, and Neonatal Diseases and Abnormalities
- Inborn genetic diseases
  - Inborn errors of metabolism
    - Brain Diseases, Metabolic, Inborn
      - Lysosomal Storage Diseases, Nervous System
        Fucosidosis
        Glycogen storage disease, type II
        Danon disease
        Glycogen storage disease due to acid maltase deficiency, infantile onset
        Glycogen storage disease due to acid maltase deficiency, late-onset
        Glycogen storage disease type II, infantile
        Mucolipidosis
        Deficiency of N-acetylglucosamine-1-phosphotransferase
        GNPTG-mucolipidosis
        Mucolipidosis type II
        Mucolipidosis Type IIIA
        Mucolipidosis type IV
        Sialidosis
        Sialidosis type 1
        Sialidosis type 2
        Sialuria
        Sphingolipidosis
        Autosomal recessive cerebellar ataxia with late-onset spasticity
        Combined PSAP deficiency
        Fabry disease
        Farber lipogranulomatosis
        Galactosylceramide beta-galactosidase deficiency
        Adult Krabbe disease
        Infantile Krabbe disease
        Late-infantile/juvenile Krabbe disease
        Gangliosidosis
        GM1 gangliosidosis
        GM2 gangliosidosis
        Gaucher disease
        Gaucher disease due to saposin C deficiency
        Gaucher disease perinatal lethal
        Gaucher disease type 3A
        Gaucher disease type 3B
        Gaucher disease type I
        Gaucher disease type II
        Gaucher disease type III
        Gaucher disease, Norrbottnian type
        Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome
        Metachromatic leukodystrophy
        Metachromatic leukodystrophy, adult type
        Metachromatic leukodystrophy, juvenile type
        Metachromatic leukodystrophy, late infantile form
        Multiple sulfatase deficiency
        Sea-blue histiocyte syndrome
        Sphingomyelin/cholesterol lipidosis
        Acid sphingomyelinase deficiency
        Chronic neurovisceral acid sphingomyelinase deficiency
        Niemann-Pick disease type E
        Niemann-Pick disease, type A
        Niemann-Pick disease, type B
        Niemann-Pick disease, type C
        Sulfatidoses
        Tay-Sachs disease
        Juvenile (Subacute) Hexosaminidase A Deficiency
        Tay-Sachs disease, B variant, adult form
        Tay-Sachs disease, b variant, infantile form
        Tay-Sachs disease, b variant, juvenile form
        Tay-Sachs disease, B1 variant

Professional guidelines

PubMed

An expert consensus on practical clinical recommendations and guidance for patients with classic Fabry disease.

Germain DP, Altarescu G, Barriales-Villa R, Mignani R, Pawlaczyk K, Pieruzzi F, Terryn W, Vujkovac B, Ortiz A
Mol Genet Metab 2022 Sep-Oct;137(1-2):49-61. Epub 2022 Jul 26 doi: 10.1016/j.ymgme.2022.07.010. PMID: 35926321

Advances in diagnosis and management of Pompe disease.

Davison JE
J Mother Child 2020 Oct 2;24(2):3-8. doi: 10.34763/jmotherandchild.20202402si.2001.000002. PMID: 33554498 Free PMC Article

Fabry disease revisited: Management and treatment recommendations for adult patients.

Ortiz A, Germain DP, Desnick RJ, Politei J, Mauer M, Burlina A, Eng C, Hopkin RJ, Laney D, Linhart A, Waldek S, Wallace E, Weidemann F, Wilcox WR
Mol Genet Metab 2018 Apr;123(4):416-427. Epub 2018 Feb 28 doi: 10.1016/j.ymgme.2018.02.014. PMID: 29530533

See all (995)

Recent clinical studies

Etiology

Gaucher disease: a lysosomal neurodegenerative disorder.

Huang WJ, Zhang X, Chen WW
Eur Rev Med Pharmacol Sci 2015 Apr;19(7):1219-26. PMID: 25912581

Neuroimaging of lipid storage disorders.

Rieger D, Auerbach S, Robinson P, Gropman A
Dev Disabil Res Rev 2013;17(3):269-82. doi: 10.1002/ddrr.1120. PMID: 23798015

Lysosomal diseases: biochemical pathways and investigations.

Vanier MT
Handb Clin Neurol 2013;113:1695-9. doi: 10.1016/B978-0-444-59565-2.00037-X. PMID: 23622390

Drug induced phospholipidosis: an acquired lysosomal storage disorder.

Shayman JA, Abe A
Biochim Biophys Acta 2013 Mar;1831(3):602-11. Epub 2012 Aug 30 doi: 10.1016/j.bbalip.2012.08.013. PMID: 22960355 Free PMC Article

Pathophysiology of neuropathic lysosomal storage disorders.

Bellettato CM, Scarpa M
J Inherit Metab Dis 2010 Aug;33(4):347-62. Epub 2010 Apr 29 doi: 10.1007/s10545-010-9075-9. PMID: 20429032

See all (21)

Diagnosis

Gaucher disease: a lysosomal neurodegenerative disorder.

Huang WJ, Zhang X, Chen WW
Eur Rev Med Pharmacol Sci 2015 Apr;19(7):1219-26. PMID: 25912581

Neuroimaging of lipid storage disorders.

Rieger D, Auerbach S, Robinson P, Gropman A
Dev Disabil Res Rev 2013;17(3):269-82. doi: 10.1002/ddrr.1120. PMID: 23798015

Neuronopathic lysosomal storage diseases: clinical and pathologic findings.

Prada CE, Grabowski GA
Dev Disabil Res Rev 2013;17(3):226-46. doi: 10.1002/ddrr.1116. PMID: 23798011

Lysosomal diseases: biochemical pathways and investigations.

Vanier MT
Handb Clin Neurol 2013;113:1695-9. doi: 10.1016/B978-0-444-59565-2.00037-X. PMID: 23622390

Neuroimaging in leukodystrophies.

Barker PB, Horská A
J Child Neurol 2004 Aug;19(8):559-70. doi: 10.1177/088307380401900801. PMID: 15605464

See all (23)

Therapy

Neuronopathic lysosomal storage disorders: Approaches to treat the central nervous system.

Scarpa M, Bellettato CM, Lampe C, Begley DJ
Best Pract Res Clin Endocrinol Metab 2015 Mar;29(2):159-71. Epub 2015 Jan 5 doi: 10.1016/j.beem.2014.12.001. PMID: 25987170

Drug induced phospholipidosis: an acquired lysosomal storage disorder.

Shayman JA, Abe A
Biochim Biophys Acta 2013 Mar;1831(3):602-11. Epub 2012 Aug 30 doi: 10.1016/j.bbalip.2012.08.013. PMID: 22960355 Free PMC Article

Glycosphingolipid disorders of the brain.

Boomkamp SD, Butters TD
Subcell Biochem 2008;49:441-67. doi: 10.1007/978-1-4020-8831-5_17. PMID: 18751922

Central nervous system therapy for lysosomal storage disorders.

Enns GM, Huhn SL
Neurosurg Focus 2008;24(3-4):E12. doi: 10.3171/FOC/2008/24/3-4/E11. PMID: 18341388

Gene therapy progress and prospects: gene therapy of lysosomal storage disorders.

Cheng SH, Smith AE
Gene Ther 2003 Aug;10(16):1275-81. doi: 10.1038/sj.gt.3302092. PMID: 12883523

See all (14)

Prognosis

The lysosomal storage disorders mucolipidosis type II, type III alpha/beta, and type III gamma: Update on GNPTAB and GNPTG mutations.

Velho RV, Harms FL, Danyukova T, Ludwig NF, Friez MJ, Cathey SS, Filocamo M, Tappino B, Güneş N, Tüysüz B, Tylee KL, Brammeier KL, Heptinstall L, Oussoren E, van der Ploeg AT, Petersen C, Alves S, Saavedra GD, Schwartz IV, Muschol N, Kutsche K, Pohl S
Hum Mutat 2019 Jul;40(7):842-864. Epub 2019 Apr 13 doi: 10.1002/humu.23748. PMID: 30882951

Endo-lysosomal and autophagic dysfunction: a driving factor in Alzheimer's disease?

Whyte LS, Lau AA, Hemsley KM, Hopwood JJ, Sargeant TJ
J Neurochem 2017 Mar;140(5):703-717. Epub 2017 Jan 23 doi: 10.1111/jnc.13935. PMID: 28027395

Blood-brain barrier structure and function and the challenges for CNS drug delivery.

Abbott NJ
J Inherit Metab Dis 2013 May;36(3):437-49. Epub 2013 Apr 23 doi: 10.1007/s10545-013-9608-0. PMID: 23609350

Neuroimaging in leukodystrophies.

Barker PB, Horská A
J Child Neurol 2004 Aug;19(8):559-70. doi: 10.1177/088307380401900801. PMID: 15605464

Disruption of PPT2 in mice causes an unusual lysosomal storage disorder with neurovisceral features.

Gupta P, Soyombo AA, Shelton JM, Wilkofsky IG, Wisniewski KE, Richardson JA, Hofmann SL
Proc Natl Acad Sci U S A 2003 Oct 14;100(21):12325-30. Epub 2003 Oct 3 doi: 10.1073/pnas.2033229100. PMID: 14528005 Free PMC Article

See all (9)

Clinical prediction guides

The lysosomal storage disorders mucolipidosis type II, type III alpha/beta, and type III gamma: Update on GNPTAB and GNPTG mutations.

Blood-brain barrier structure and function and the challenges for CNS drug delivery.

Abbott NJ
J Inherit Metab Dis 2013 May;36(3):437-49. Epub 2013 Apr 23 doi: 10.1007/s10545-013-9608-0. PMID: 23609350

Clinical aspects of neuropathic lysosomal storage disorders.

Jardim LB, Villanueva MM, de Souza CF, Netto CB
J Inherit Metab Dis 2010 Aug;33(4):315-29. Epub 2010 May 21 doi: 10.1007/s10545-010-9079-5. PMID: 20490930

Pathogenic cascades in lysosomal disease-Why so complex?

Walkley SU
J Inherit Metab Dis 2009 Apr;32(2):181-9. Epub 2009 Jan 7 doi: 10.1007/s10545-008-1040-5. PMID: 19130290 Free PMC Article

A block of autophagy in lysosomal storage disorders.

Settembre C, Fraldi A, Jahreiss L, Spampanato C, Venturi C, Medina D, de Pablo R, Tacchetti C, Rubinsztein DC, Ballabio A
Hum Mol Genet 2008 Jan 1;17(1):119-29. Epub 2007 Oct 3 doi: 10.1093/hmg/ddm289. PMID: 17913701

See all (9)

Recent systematic reviews

Decreased T2 signal in the thalami may be a sign of lysosomal storage disease.

Autti T, Joensuu R, Aberg L
Neuroradiology 2007 Jul;49(7):571-8. Epub 2007 Mar 3 doi: 10.1007/s00234-007-0220-6. PMID: 17334752

See all (1)

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