Search research articles

ABOUT JoVE

Overview Leadership Blog JoVE Help Center

AUTHORS

Publishing Process Editorial Board Scope & Policies Peer Review FAQ Submit

LIBRARIANS

Testimonials Subscriptions Access Resources Library Advisory Board FAQ

RESEARCH

JoVE Journal Methods Collections JoVE Encyclopedia of Experiments Archive

EDUCATION

JoVE Core JoVE Business JoVE Science Education JoVE Lab Manual Faculty Resource Center Faculty Site

Terms & Conditions of Use

Related Concept Videos

Lysosomal Hydrolases

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,...

Inborn Errors of Metabolism

Inborn Errors of Metabolism

Phenylketonuria (PKU) is a protein metabolism disorder characterized by high blood levels of the amino acid phenylalanine. This results from a mutation in the gene responsible for phenylalanine hydroxylase, an enzyme that converts phenylalanine into tyrosine. When this enzyme is deficient, phenylalanine builds up in the blood, leading to symptoms such as vomiting, rashes, seizures, growth deficiency, and severe mental retardation. An early diagnosis and a diet restricting phenylalanine intake...

Glucose Transporters

Glucose Transporters

Glucose transporters facilitate the transport of glucose across the cell membrane. In addition to glucose, some glucose transporters can also aid the movement of other hexoses such as fructose, mannose, and galactose.
Facilitated diffusion-glucose transporters (GLUTs) are encoded by the solute-linked carrier (SLC) family 2, subfamily A gene family, or SLC2A. The 14 GLUT protein members are distributed into three classes:

Delivery Pathways to the Lysosome

Delivery Pathways to the Lysosome

Eukaryotic cells use different mechanisms to eliminate toxic waste obsolete and worn-out substances. Lysosomes play a pivotal role in this, and hence, these substances are carried to the lysosome from other parts of the cell and extracellular space through different pathways. The most elaborately studied pathways to the lysosome are the endocytic pathways.
Endocytosis
In endocytosis, the cell membrane takes up macromolecules and particles from the surrounding medium. Clathrin-mediated...

Lysosomes

Lysosomes

Lysosomes are membrane-enclosed spherical sacs derived from the Golgi apparatus. The most important function of the lysosome is degrading macromolecules and biological polymers that are released during membrane trafficking events such as the secretory, endocytic, autophagic, and phagocytic pathways. The degradation is carried out by several hydrolytic enzymes active in an acidic environment of the lysosomal lumen. These acid hydrolases are involved in cellular processes such as cell signaling,...

Lysosomes

Lysosomes

Lysosomes are membrane-enclosed spherical sacs derived from the Golgi apparatus. The most important function of the lysosome is degrading macromolecules and biological polymers that are released during membrane trafficking events such as the secretory, endocytic, autophagic, and phagocytic pathways. The degradation is carried out by several hydrolytic enzymes active in an acidic environment of the lysosomal lumen. These acid hydrolases are involved in cellular processes such as cell signaling,...

You might also read

Related Articles

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

Sort by

Same author

Carrier suppression system to measure phase noise of acoustic resonators with low motional resistance.

The Review of scientific instruments·2020

Same author

Prevalence of Attention Deficit Hyperactivity Disorder among School Children and Associated Co-morbidities - A Hospital Based Descriptive Study.

Kathmandu University medical journal (KUMJ)·2017

Same author

An Assessment of Diabetic Retinopathy and Diabetes Management System in Nepal.

Journal of Nepal Health Research Council·2016

Same author

Relation between Calcium, Phosphorus, Calcium-Phosphorus Index and iPTH in Chronic Kidney Disease Patients.

Journal of Nepal Health Research Council·2015

Same author

Serum uric acid level in normal pregnant and preeclamptic ladies: a comparative study.

Nepal Medical College journal : NMCJ·2015

Same author

Color vision deficiency among a group of students of health sciences.

Nepal Medical College journal : NMCJ·2014

Search research articles

Related Experiment Video

Updated: Jun 9, 2026

In Vitro Enzyme Measurement to Test Pharmacological Chaperone Responsiveness in Fabry and Pompe Disease

In Vitro Enzyme Measurement to Test Pharmacological Chaperone Responsiveness in Fabry and Pompe Disease

Published on: December 20, 2017

Lysosomal storage disease.

B Khatiwada¹, A Pokharel

¹Deurali Primary Health Centre, Deurali-8 Nuwakot, Nuwakot, Nepal. binodkhatiwada@gmail.com

JNMA; Journal of the Nepal Medical Association

|August 28, 2010

Summary

This summary is machine-generated.

A rare lysosomal storage disease, likely GM1 gangliosidosis, was diagnosed in a child using a lysosomal enzyme assay. This diagnosis is crucial for managing the condition and for future family planning.

More Related Videos

Evaluation of LC3-II Release via Extracellular Vesicles in Relation to the Accumulation of Intracellular LC3-positive Vesicles

Evaluation of LC3-II Release via Extracellular Vesicles in Relation to the Accumulation of Intracellular LC3-positive Vesicles

Published on: October 18, 2024

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

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

Published on: October 21, 2014

Related Experiment Videos

Last Updated: Jun 9, 2026

In Vitro Enzyme Measurement to Test Pharmacological Chaperone Responsiveness in Fabry and Pompe Disease

In Vitro Enzyme Measurement to Test Pharmacological Chaperone Responsiveness in Fabry and Pompe Disease

Published on: December 20, 2017

Evaluation of LC3-II Release via Extracellular Vesicles in Relation to the Accumulation of Intracellular LC3-positive Vesicles

Evaluation of LC3-II Release via Extracellular Vesicles in Relation to the Accumulation of Intracellular LC3-positive Vesicles

Published on: October 18, 2024

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

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

Published on: October 21, 2014

Area of Science:

Biochemistry
Genetics
Pediatric Neurology

Background:

Lysosomal storage diseases (LSDs) are a group of rare genetic disorders.
GM1 gangliosidosis is a specific LSD characterized by deficient beta-galactosidase activity.
Early diagnosis is critical for management and genetic counseling.

Observation:

A two-year-old boy presented with progressive weakness, vision loss, neck hypotonia, and spasticity.
Fundus examination revealed characteristic cherry-red spots at the macula.
Neurological symptoms mimicked other common neurological conditions.

Findings:

Lysosomal enzyme assay showed significantly low beta-galactosidase levels.
The clinical presentation and enzyme assay strongly indicated GM1 gangliosidosis.
This case highlights the diagnostic utility of enzyme assays in suspected LSDs.

Implications:

Accurate diagnosis of GM1 gangliosidosis is essential for appropriate patient care.
Distinguishing LSDs from other neurological disorders is vital to avoid diagnostic delays.
Genetic diagnosis facilitates informed family planning and reproductive choices for affected families.