Special Issue "Diagnostic and Therapeutic Developments in Lysosomal Storage Disorders"

A special issue of Journal of Clinical Medicine (ISSN 2077-0383). This special issue belongs to the section "Clinical Neurology".

Deadline for manuscript submissions: 25 June 2023 | Viewed by 143

Special Issue Editors

Salford Royal NHS Foundation Trust, Adult Inherited Metabolic Diseases Department, Salford, UK
Interests: lysosomal storage diseases; mucopolysaccharidosis; cardiovascular risk; fucosidosis; mucolipidosis I, II, III, and IV; secondary mitochondrial dysfunction; transition process; GM1-gangliosidosis; hematopoietic stem cell transplantation; hormonal dysfunction
Special Issues, Collections and Topics in MDPI journals
Division of Genetics, Department of Pediatrics, Children’s Hospital of Philadelphia, Philadelphia, PA, USA
Interests: adult metabolic medicine; healthcare transition; neurocognitive outcomes; reproductive healthcare; adult manifestations of inherited metabolic disorders
National Human Genome Research Institute (NHGRI), Bethesda, MD, USA
Interests: adult metabolic medicine; lysosomal storage diseases; healthcare transition; laboratory of biochemical genetics; cardiac manifestations of inherited metabolic disorders; cardiogenetics
* Dr. Jerves serves in his own capacity. The views expressed are his own and do not necessarily represent the views of the National Institutes of Health or the United States

Special Issue Information

Dear Colleagues,

Lysosomal storage diseases (LSDs) are a heterogenous group of more than 70 inherited metabolic conditions caused by defects in genes that encode proteins required for lysosomal homeostasis. Individually, these conditions are rare, but their combined prevalence is estimated to be ~1 in 5000 live births.

Clinical manifestations can be observed from the prenatal period to adulthood; multiple organs throughout the body are affected, such as the central nervous system, heart, kidney, liver, and bones. The spectrum of clinical symptoms usually does not have a clear phenotype–genotype correlation, and intrafamilial variability is frequently described. Due to the multisystemic nature, non-metabolic clinicians (e.g., ophthalmologists, dermatologists) may first suspect an LSD diagnosis.

Newborn screening and massive parallel sequencing have facilitated earlier diagnoses, as well as the identification of attenuated forms and pre-symptomatic individuals. Therapeutic advances such as enzyme replacement therapy have improved healthcare outcomes and life expectancy over the last few decades. However, new challenges arise in the management of LSDs: transition of pediatric to adult care, coordination of multidisciplinary teams, reproductive planning, and newly recognized long-term complications.

This Special Issue of the Journal of Clinical Medicine aims to attract original research articles, reviews, and short communications on understanding recent advances in the natural history, diagnosis, and management of LSDs.

Dr. Karolina M. Stepien
Dr. Jessica Gold
Dr. Teodoro Jerves Serrano
Guest Editors

Manuscript Submission Information

Manuscripts should be submitted online at www.mdpi.com by registering and logging in to this website. Once you are registered, click here to go to the submission form. Manuscripts can be submitted until the deadline. All submissions that pass pre-check are peer-reviewed. Accepted papers will be published continuously in the journal (as soon as accepted) and will be listed together on the special issue website. Research articles, review articles as well as short communications are invited. For planned papers, a title and short abstract (about 100 words) can be sent to the Editorial Office for announcement on this website.

Submitted manuscripts should not have been published previously, nor be under consideration for publication elsewhere (except conference proceedings papers). All manuscripts are thoroughly refereed through a single-blind peer-review process. A guide for authors and other relevant information for submission of manuscripts is available on the Instructions for Authors page. Journal of Clinical Medicine is an international peer-reviewed open access semimonthly journal published by MDPI.

Please visit the Instructions for Authors page before submitting a manuscript. The Article Processing Charge (APC) for publication in this open access journal is 2600 CHF (Swiss Francs). Submitted papers should be well formatted and use good English. Authors may use MDPI's English editing service prior to publication or during author revisions.


  • genetics
  • carrier screening
  • newborn screening
  • biomarkers
  • molecular diagnosis
  • massive parallel sequencing
  • cardiac complications
  • neurological complications
  • neurocognitive outcomes
  • pregnancy
  • reproductive planning
  • coordination of care
  • healthcare transition
  • adult-oriented medical care
  • gene therapy
  • enzyme replacement therapy
  • molecular chaperones

Published Papers

This special issue is now open for submission.
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