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Related Concept Videos

Glucose Transporters01:27

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:
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,...
Diseases of the Liver and Gallbladder01:26

Diseases of the Liver and Gallbladder

Liver and gallbladder diseases are a significant health concern, with prominent conditions including cirrhosis, hepatitis, non-alcoholic fatty liver disease (NAFLD), and gallstones. Jaundice is a common manifestation of liver and biliary disease.
Cirrhosis is characterized by the scarring of hepatic lobules in the liver, which are replaced by fibrous tissue, affecting the liver's normal functioning. NAFLD, on the other hand, is caused by an excessive build-up of fat in the liver, not related to...
Inborn Errors of Metabolism01:20

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...
Huntington Disease l: Introduction01:21

Huntington Disease l: Introduction

Huntington disease or HD is a progressive, fatal neurodegenerative disorder inherited in an autosomal dominant pattern.PathophysiologyIt is caused by expansion of the CAG trinucleotide repeat in the HTT gene on chromosome 4 (4p16.3), producing an abnormal huntingtin protein with an expanded polyglutamine tract. This misfolded protein disrupts cellular function, leading to neuronal death. Normal alleles have ≤26 repeats, 27–35 are intermediate (risk of expansion), 36–39 show reduced penetrance,...
Jaundice01:25

Jaundice

Jaundice, or icterus, is the yellow discoloration of the skin, sclerae, and mucous membranes. It happens when plasma bilirubin levels rise above 2.5-3 mg/dL, leading to bilirubin deposition in tissue.Bilirubin is a byproduct of hemoglobin degradation. In macrophages, hemoglobin breaks down into globin and heme. Globin is converted into amino acids, while heme is turned into biliverdin by heme oxygenase, which is then reduced to unconjugated bilirubin by biliverdin reductase.Unconjugated...

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Related Experiment Video

Updated: May 11, 2026

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

Published on: December 20, 2017

Gaucher disease.

Cyril Mignot1, Antoinette Gelot, Thierry Billette De Villemeur

  • 1Pediatric Neurology Service, Pathologie du Développement, Hôpital Trousseau, Université Pierre et Marie Curie-Paris VI, Paris, France.

Handbook of Clinical Neurology
|April 30, 2013
PubMed
Summary

Gaucher disease, a genetic disorder causing lipid buildup, has treatments that are highly effective for systemic symptoms but show limited impact on neurological issues. Further research is needed for effective neurological treatments.

Area of Science:

  • Genetics and rare diseases
  • Lysosomal storage disorders
  • Neurodegenerative diseases

Background:

  • Gaucher disease is an autosomal recessive lysosomal storage disorder.
  • It results from glucocerebrosidase deficiency, leading to glucosylceramide accumulation, primarily in macrophages.
  • Mutations in the GBA gene are the main cause, with PSAP gene mutations causing saposine C deficiency.

Purpose of the Study:

  • To summarize the key aspects of Gaucher disease, including its genetic basis, clinical manifestations, and current treatment outcomes.
  • To highlight the disparity in treatment efficacy between systemic and neurological symptoms.

Main Methods:

  • Review of existing literature on Gaucher disease genetics, pathology, and clinical studies.
  • Analysis of the effectiveness of enzyme replacement therapy (ERT) on systemic and neurological manifestations.

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Main Results:

  • Gaucher disease presents a wide spectrum of clinical severity, affecting individuals from fetus to adulthood.
  • Key systemic manifestations include splenomegaly, blood cytopenia, and bone disease.
  • Neurological degeneration occurs in 5-10% of patients, linked to glucosylceramide and psychosine accumulation in neurons.

Conclusions:

  • Enzyme replacement therapy significantly improves systemic Gaucher disease outcomes.
  • Current ERT has limited efficacy in treating the neurological signs of Gaucher disease.
  • Further therapeutic strategies are required to address the neurological aspects of this condition.