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Lysosomal Storage Disorders

Elsevier Inc.
DOI: 10.1016/b978-0-12-385157-4.00096-8
  • Hematopoietic Stem Cell Transplantation
  • Hepatosplenomegaly
  • I-Cell Disease
  • Leukodystrophy
  • Lysosomal Storage Disorders
  • Mannose-6-Phosphate
  • Seizures
  • Biology
  • Medicine


Abstract The lysosomal storage disorders (LSD) are metabolic diseases, caused primarily by the deficiency of an enzyme or its cofactor and the tissue-specific accumulation of incompletely degraded substrates. The majority are associated with primary central nervous system involvement, in the presence or absence of systemic features suggestive of a storage disease such as hepatosplenomegaly. Management is mainly supportive care, although hematopoietic stem cell transplantation, enzyme replacement therapy, or substrate synthesis inhibition is available for a limited number of cases. There is interest newborn screening, so families at risk may be offered the opportunity for preimplantation or prenatal diagnosis. Early detection also enables treatment before established disease. The blood–brain barrier remains a major hurdle in achieving an optimal therapeutic outcome.

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