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Lysosomal storage diseases.

Carlos R Ferreira1,2,3, William A Gahl3

  • 1Division of Genetics and Metabolism, Children's National Health System, Washington, DC, USA.

Translational Science of Rare Diseases
|November 21, 2017
PubMed
Summary
This summary is machine-generated.

Lysosomal storage diseases result from genetic defects causing material buildup. Enzyme replacement and substrate reduction therapies are improving treatment and enabling newborn screening for conditions like Pompe and Hurler diseases.

Keywords:
Fabry diseaseFarber diseaseGM1 gangliosidosisGaucher diseaseKrabbe diseaseLysosomal storage diseasesNiemann-Pick diseaseSandhoff diseaseSchindler diseaseTay-Sachs diseasecystinosisfree sialic acid storage diseasemetachromatic leukodystrophymucolipidosis IVnewborn screening

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Area of Science:

  • Biochemistry
  • Genetics
  • Cell Biology

Background:

  • Lysosomes are vital organelles containing hydrolases for cellular degradation.
  • Deficiencies in lysosomal enzymes, activator proteins, or transporters cause material accumulation, leading to various storage diseases.
  • Examples include Pompe disease (glycogen), mucopolysaccharidoses (glycosaminoglycans), and sphingolipidoses (sphingolipids).

Purpose of the Study:

  • To review the causes and therapeutic advancements in lysosomal storage diseases.
  • To highlight the development and availability of enzyme replacement and substrate reduction therapies.
  • To discuss the impact of new treatments on newborn screening initiatives.

Main Methods:

  • Literature review of lysosomal storage diseases and their treatments.
  • Analysis of current therapeutic strategies including enzyme replacement therapy (ERT) and substrate reduction therapy (SRT).
  • Examination of the evolution of newborn screening programs for lysosomal storage diseases.

Main Results:

  • Genetic defects in lysosomal hydrolases, activator proteins, or transporters cause distinct storage diseases.
  • Several ERTs (e.g., alglucosidase alfa for Pompe disease) and SRTs (e.g., eliglustat for Gaucher disease) are now available.
  • Successful treatments have facilitated the inclusion of Pompe and Hurler diseases in newborn screening panels.

Conclusions:

  • Lysosomal storage diseases are a diverse group of genetic disorders with significant clinical impact.
  • Therapeutic options have expanded considerably, offering new hope for affected individuals.
  • Advancements in treatment are driving the expansion of newborn screening, enabling earlier diagnosis and intervention.