KEGG   DISEASE: Lysosomal storage disease
H01425                      Disease                                
Lysosomal storage disease
Mucopolysaccharidosis [DS:H00421]
Sphingolipidosis [DS:H00423]
Pompe disease [DS:H01940]
Prosaposin deficiency [DS:H01239]
Wolman disease [DS:H00148]
Neuronal ceroid lipofuscinosis [DS:H00149]
Lysosomal cysteine protease deficiencies [DS:H00425]
Acid phosphatase deficiency [DS:H01113]
Cystinosis [DS:H00275]
Sialuria [DS:H00147]
Danon disease [DS:H00150]
Defects in lysosomal trafficking [DS:H02128]
Lysosomal storage diseases (LSDs) are a group of inherited diseases that are characterised by the intracellular accumulation of incompletely degraded macromolecules. They result from a genetic defect in cellular transport or metabolism of molecules within the lysosome. Most of the patients with a LSD are born apparently healthy and the symptoms develop progressively. Treatment is directed toward symptomatic care of secondary complications for most of these diseases. For some individuals, hematopoietic stem cell transplantation or enzyme-replacement therapy can be effective.
LSDs are divided into the following 5 groups. For details, please refer to the each entry.
1. Defects in glycan degradation: Fabry disease, Mucopolysaccharidosis, Glycoproteinoses, Defects in the degradation of sulfatide, Defects in the degradation of ganglioside, Pompe disease, Prosaposin deficiency
2. Defects in lipid degradation: Defects in the degradation of sphingomyelin, Wolman disease
3. Defects in protein degradation: Neuronal ceroid lipofuscinosis, Lysosomal cysteine protease deficiencies, Acid phosphatase deficiency
4. Defects in lysosomal transporters: Cystinosis, Sialuria, Danon disease
5. Defects in lysosomal trafficking: Niemann-Pick disease type C, Mucolipidosis II, III, and IV, Neuronal ceroid lipofuscinosis, Hermansky-Pudlak syndrome, Chediak-Higashi syndrome
Congenital disorder of metabolism
Human diseases [BR:br08402]
 Congenital disorders of metabolism
  Lysosomal storage diseases
   H01425  Lysosomal storage disease
Human diseases in ICD-11 classification [BR:br08403]
 05 Endocrine, nutritional or metabolic diseases
  Metabolic disorders
   Inborn errors of metabolism
    5C56  Lysosomal diseases
     H01425  Lysosomal storage disease
Other DBs
ICD-11: 5C56
ICD-10: E70 E72 E74 E75 E76 E77 E83 Q82
MeSH: D016464
Heese BA
Current strategies in the management of lysosomal storage diseases.
Semin Pediatr Neurol 15:119-26 (2008)

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