About this Research Topic
The lysosomal storage diseases (LSDs) are a heterogeneous group of rare inborn errors of metabolism resulting from a deficiency in normal lysosomal function. This group includes around 70 disorders which are caused by progressive accumulation of storage material within the lysosomes of affected cells, ultimately leading to cellular dysfunction.
Multiple tissues ranging from musculoskeletal and visceral to tissues of the central nervous system (CNS) are typically involved in disease pathology. The LSDs are often categorized according to the type of substrate stored.
Specific examples of LSDs include Gaucher disease, Fabry disease, the Niemann-Pick disorders, Tay Saches disease, mucopolysaccharidoses (MPSs), mucolipidoses, Pompe disease, neuronal ceroid lipofuscinoses (CLNs) and oligosaccharidoses. Many of these disorders affect the CNS and most of the patients suffer from decreased quality of life and significant morbidity.
In general, LSDs are individually rare but have a frequency of one in 5000–8000 live births. Almost all LSDs are inherited in an autosomal recessive manner, although there are exceptions. Fabry disease, Hunter syndrome (MPS II), and Danon disease follow an X-linked recessive pattern; and CLN 4B disease follows an autosomal dominant fashion.
The most recent therapeutic advancements for some LSDs include enzyme replacement therapy (ERT), hematopoietic stem cell transplantation, and small molecule therapeutic drugs, including substrate reduction and chaperone therapies. The treatments for LSDs significantly improve the general clinical outcomes and life-span. Thus newborn screening for LSDs is very important for early diagnosis and treatment. And, as the LSDs are single-gene disorders, gene therapies and genome editing strategies may be suitable for LSDs, and they may be able to provide long-term correction for LSD patients.
In this Research Topic, we are looking to gather research about the biology of lysosomes, overview of LSDs (biochemical and physiological pathology), epidemiology, clinical diagnosis and clinical features, current therapies, future therapies (gene therapy, genome editing, etc) and newborn screening for LSD.
We want to highlight the importance of LSDs and review this group of diseases from a comprehensive point of view. The following sub-topics are welcome:
• Basic Aspects of LSDs
-History of Lysosome storage disease
-Structure and function of lysosome
-Metabolic defects in LSD
• Clinical Aspects of LSDs
-Overview: clinical medicine of LSD
-Inheritance of LSD
-Diagnostic imaging of LSD
• Diagnosis of LSDs
-Overview: diagnosis of LSDs (Biochemical diagnosis, morphological diagnosis and genetic diagnosis)
-Newborn screening and high risk screening
• Therapeutic Developments for LSDs: Current and Future Perspectives
-General state of the treatment and supportive treatments
-Current status of enzyme replacement therapy
-Small-molecule therapies: Substrate reduction therapy and chaperone therapy.
-Gene theraphy of LSD
• Review of specific LSDs: Fabry disease, gangliosidosis, Gaucher disease, mucopolysaccharidosis (MPS), neuronal ceroido lipofuscinosis (NCL), Niemann Pick disease, Pompe disease.
Topic Editors hold patents related to clinical treatments
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