Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Lysosomal storage disease

This group of diseases is characterized by accumulation of intermediary biochemical substances in lysosomes. This may be caused by defects of either enzyme or membrane transporter function and presents enlarged vacuoles, transformed lysosomes, in the cell. Because lysomomes are important organelles, which play an important role in almost all types of cells, the diseases involve several organs.

Systematic

Hereditary metabolic diseases
Aceruloplasminemia/Hypoceruloplasminemia
Coenzyme Q10 deficiency
Congenital disorder of glycosylation
Disorders of cobalamin metabolism
Disorders of iron metabolism
Disorders of urate metabolism
Disturbances in phosphate metabolism
Disturbances of glucose metabolism
Food intolerance
Genetic hyperbilirubinemia
Glycolipidosis
HADH deficiency
Hereditary lipid disorders
Hypercatabolic hypoproteinemia
Hyperzincemia and hypercalprotectinemia
Hypomagnesemia
Hypomethylation syndrome
Lysosomal storage disease
Cystinosis
CTNS
Fabry disease
GLA
Infantile sialic acid storage disorder
SLC17A5
Lysosomal acid lipase deficiency
LIPA
Salla disease
SLC17A5
Wolman disease
LIPA
MELAS syndrome
Methionine adenosyltransferase deficiency
Methylmalonic aciduria
Urea cycle disorders

References:

1.

Giugliani R et al. (2007) Management guidelines for mucopolysaccharidosis VI.

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2.

Kemper AR et al. (2007) Newborn screening for Pompe disease: synthesis of the evidence and development of screening recommendations.

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3.

Jakóbkiewicz-Banecka J et al. (2007) Substrate deprivation therapy: a new hope for patients suffering from neuronopathic forms of inherited lysosomal storage diseases.

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4.

Breunig F et al. () Update on Fabry disease: kidney involvement, renal progression and enzyme replacement therapy.

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5.

Smith EL et al. (2008) The unexpected role of acid sphingomyelinase in cell death and the pathophysiology of common diseases.

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6.

Goldman SA et al. (2008) Stem cell-based strategies for treating pediatric disorders of myelin.

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7.

Winslow AR et al. (2008) Autophagy in neurodegeneration and development.

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8.

Malm D et al. (2008) Alpha-mannosidosis.

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9.

Yu RK et al. (2009) The role of glycosphingolipid metabolism in the developing brain.

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10.

Lübke T et al. (2009) Proteomics of the lysosome.

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11.

Cornell RA et al. (2008) A double TRPtych: six views of transient receptor potential channels in disease and health.

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12.

Schoser B et al. (2008) Therapeutic approaches in glycogen storage disease type II/Pompe Disease.

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13.

None (2009) Pathogenic cascades in lysosomal disease-Why so complex?

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14.

None (2009) Gene therapy for lysosomal storage diseases (LSDs) in large animal models.

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15.

Gagliardi C et al. (2009) Large animal models of neurological disorders for gene therapy.

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16.

Staretz-Chacham O et al. (2009) Lysosomal storage disorders in the newborn.

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17.

OMIM.ORG article

Omim 256150 [^]
18.

Orphanet article

Orphanet ID 309294 [^]
19.

Wikipedia article

Wikipedia EN (Lysosomal_storage_disease) [^]
Update: April 29, 2019