Affiliations: Division of Genetics and Metabolism, School of
Medicine and Health Sciences, Children's National Health System, The George
Washington University, Washington, DC, USA
Note: [] Corresponding author: Pranoot Tanpaiboon, Division of Genetics
and Metabolism, School of Medicine and Health Sciences, Children's National
Medical Center, The George Washington University, 111 Michigan Avenue, N.W.,
Washington, DC 20010, USA. Tel.: +1 202 476 6287; Fax: +1 202 476 2390; E-mail:
ptanpaib@childrensnational.org
Abstract: Lysosomes are cytoplasmic organelles that play a major role in
cellular metabolic salvage, necessary for cellular homeostasis. Besides,
degrading several macromolecules in metabolic salvage process, lysosomes also
involve in several cellular processes e.g. cell apoptosis and intracellular
signaling. Lysosomal storage disorder (LSD) is a group of inherited metabolic
disorders, which can present at any age from prenatal to adult.
Pathology/pathophysiology usually engages several organ systems. Majority of
diseases in this group involve neurological system causing neurodegenerative
manifestation. Biomarkers are not only available but also useful for disease
screening and monitoring. Diagnosis should be confirmed by enzyme analysis
and/or molecular analysis. Although treatment is available in some diseases,
the outcomes are not favorable in selected patients, especially when present
with neurological symptoms. Understanding the complexity of LSD is important
for patients' care and development of new treatment. Appropriate genetic
counseling should be provided to every patient.
