Jove
Visualize
Contact Us
JoVE
x logofacebook logolinkedin logoyoutube logo
ABOUT JoVE
OverviewLeadershipBlogJoVE Help Center
AUTHORS
Publishing ProcessEditorial BoardScope & PoliciesPeer ReviewFAQSubmit
LIBRARIANS
TestimonialsSubscriptionsAccessResourcesLibrary Advisory BoardFAQ
RESEARCH
JoVE JournalMethods CollectionsJoVE Encyclopedia of ExperimentsArchive
EDUCATION
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab ManualFaculty Resource CenterFaculty Site
Terms & Conditions of Use
Privacy Policy
Policies

Related Concept Videos

Lysosomal Hydrolases01:22

Lysosomal Hydrolases

Lysosomes are the site for the degradation of macromolecules and biological polymers released during membrane trafficking events such as secretory, endocytic, autophagic, and phagocytic pathways. The membrane-enclosed area of the lysosome, called the lumen, contains hydrolytic enzymes active in an acidic environment. These acid hydrolases are functional at a pH between 4.5 and 5 and are involved in cellular processes such as cell signaling, energy metabolism, restoration of the plasma membrane,...

You might also read

Related Articles

Articles linked to this work by shared authors, journal, and citation graph.

Sort by
Same author

Acute and Chronic Kernicterus: MR Imaging Evolution of Globus Pallidus Signal Change during Childhood.

AJNR. American journal of neuroradiology·2023
Same author

Leukodystrophies underlying cryptic spastic paraparesis: frequency and phenotype in 76 patients.

European journal of neurology·2014
Same author

Juvenile metachromatic leukodystrophy 10 years post transplant compared with a non-transplanted cohort.

Bone marrow transplantation·2012
Same author

L-2 hydroxyglutaric aciduria as a rare cause of leukencephalopathy in adults.

Clinical neurology and neurosurgery·2012
Same author

Medical, psychological and intellectual development of 5-year-old children born after intracytoplasmic sperm injection.

Neuropediatrics·2011
Same author

[2-year follow-up examinations (Bayley II) in infants born at <32 weeks in a German perinatal center].

Klinische Padiatrie·2011
Same journal

Prolonged Episodes of Paroxysmal Exertion-Induced Dystonia in Glut1 Deficiency Syndrome.

Neuropediatrics·2026
Same journal

Characteristics and Outcomes of Guillain-Barré Syndrome in Children.

Neuropediatrics·2026
Same journal

Clinical, Radiological, and Prognostic Features of Pediatric Clinically Isolated Syndrome and Risk of Conversion to Multiple Sclerosis: A Single-center Cohort Study.

Neuropediatrics·2026
Same journal

Gait Variability in Children with Periventricular Leukomalacia and Perinatal Stroke: A Comparison of Between-Subject Variability.

Neuropediatrics·2026
Same journal

Why Patient Narratives Belong in Neonatal Research.

Neuropediatrics·2026
Same journal

Successful Treatment of Epileptic Spasms with Perampanel in a Patient with Menkes Disease Caused by a Novel Splice Variant in Intron of ATP7A.

Neuropediatrics·2026
See all related articles

Related Experiment Video

Updated: Jun 12, 2026

An In Vitro Model for the Study of Cellular Pathophysiology in Globoid Cell Leukodystrophy
07:45

An In Vitro Model for the Study of Cellular Pathophysiology in Globoid Cell Leukodystrophy

Published on: October 21, 2014

Metachromatic leukodystrophy--an update.

V Gieselmann1, I Krägeloh-Mann

  • 1Department of Physiology, University of Bonn, Germany.

Neuropediatrics
|June 24, 2010
PubMed
Summary
This summary is machine-generated.

Metachromatic leukodystrophy (MLD) is a rare genetic disorder affecting the nervous system due to arylsulfatase A deficiency. Research is advancing therapeutic options like gene therapy and enzyme replacement for MLD.

More Related Videos

Comprehensive Autopsy Program for Individuals with Multiple Sclerosis
09:41

Comprehensive Autopsy Program for Individuals with Multiple Sclerosis

Published on: July 19, 2019

Experimental Demyelination and Remyelination of Murine Spinal Cord by Focal Injection of Lysolecithin
08:57

Experimental Demyelination and Remyelination of Murine Spinal Cord by Focal Injection of Lysolecithin

Published on: March 26, 2015

Related Experiment Videos

Last Updated: Jun 12, 2026

An In Vitro Model for the Study of Cellular Pathophysiology in Globoid Cell Leukodystrophy
07:45

An In Vitro Model for the Study of Cellular Pathophysiology in Globoid Cell Leukodystrophy

Published on: October 21, 2014

Comprehensive Autopsy Program for Individuals with Multiple Sclerosis
09:41

Comprehensive Autopsy Program for Individuals with Multiple Sclerosis

Published on: July 19, 2019

Experimental Demyelination and Remyelination of Murine Spinal Cord by Focal Injection of Lysolecithin
08:57

Experimental Demyelination and Remyelination of Murine Spinal Cord by Focal Injection of Lysolecithin

Published on: March 26, 2015

Area of Science:

  • * Neuroscience
  • * Genetics
  • * Biochemistry

Background:

  • * Metachromatic leukodystrophy (MLD) is a rare autosomal recessive lysosomal sphingolipid storage disorder.
  • * It is characterized by demyelination, resulting from a deficiency in the enzyme arylsulfatase A (ASA).
  • * MLD presents in various forms, including late-infantile, juvenile, and adult onset, with distinct clinical progressions.

Purpose of the Study:

  • * To summarize the current understanding of Metachromatic Leukodystrophy (MLD).
  • * To highlight the genetic basis and phenotypic variations of MLD.
  • * To underscore the emerging therapeutic strategies for MLD.

Main Methods:

  • * Review of existing literature on Metachromatic Leukodystrophy.
  • * Analysis of genotype-phenotype correlations in MLD patients.
  • * Summary of current research in therapeutic interventions.

Main Results:

  • * MLD is caused by arylsulfatase A (ASA) deficiency, with specific frequent alleles in Caucasian populations.
  • * Clinical manifestations vary, with rapid motor decline in early-onset forms and cognitive issues in adult-onset MLD.
  • * A correlation exists between genotype and phenotype, influencing disease severity and onset.

Conclusions:

  • * Therapeutic options including stem cell transplantation, enzyme replacement, and gene therapy are under active investigation for MLD.
  • * Understanding the genotype-phenotype correlation is crucial for predicting disease progression and tailoring treatments.
  • * Continued research is vital for developing effective interventions for this rare lysosomal storage disorder.