Related Experiment Video

Updated: Mar 7, 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

8.5K

Children with type 1 Gaucher disease: Changing profiles in the 21st century

Deborah Elstein1, Gheona Altarescu1, Aya Abrahamov1

  • 1Gaucher Clinic, Shaare Zedek Medical Center, Jerusalem, Israel.

Blood Cells, Molecules & Diseases
|February 11, 2017
PubMed

Insights

Gaucher disease (GD) screening in Ashkenazi Jewish (AJ) children reveals many diagnosed via screening have mild symptoms. Early diagnosis remains crucial, particularly for severe GD genotypes.

Area of Science:

  • Genetics and Genetic Diseases
  • Pediatric Medicine
  • Public Health Genomics

Background:

  • Gaucher disease (GD) exhibits significant phenotypic variability.
  • Increased awareness and non-invasive diagnostics have driven prenatal screening trends, particularly in at-risk Ashkenazi Jewish (AJ) populations.

Purpose of the Study:

  • To assess the demographics and clinical presentation of pediatric AJ GD patients diagnosed since 2000.
  • To evaluate the impact of large-scale screening on patient identification and early management.

Main Methods:

  • Retrospective analysis of pediatric (<16 years) Israeli AJ GD patients born after January 1, 2000.
  • Review of patient demographics, genotypes, diagnostic methods (screening vs. symptomatic), and treatment initiation.

Main Results:

  • Of 67 patients, 55 were AJ with non-neuronopathic GD; common genotypes included N370S/N370S and N370S/other.
  • Over half (54.5%) were diagnosed through screening, with many showing few initial symptoms.
  • Enzyme replacement therapy (ERT) was initiated at various ages, with screening playing a role in early treatment for some.

Conclusions:

  • Screening identifies pediatric GD patients, including those with mild or no apparent symptoms, contributing to a new demographic profile.
  • Despite mild presentations in some, early diagnosis is vital for timely intervention, especially for individuals with non-mild GD genotypes.

Keywords:
Ashkenazi JewishEnzyme replacement therapyGenotype-phenotype correlationHeight growthLarge-scale screening

More Related Videos

In Vitro Enzyme Measurement to Test Pharmacological Chaperone Responsiveness in Fabry and Pompe Disease10:16

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

Published on: December 20, 2017

8.6K
Gait Analysis of Age-dependent Motor Impairments in Mice with Neurodegeneration07:46

Gait Analysis of Age-dependent Motor Impairments in Mice with Neurodegeneration

Published on: June 18, 2018

12.7K

Related Concept Videos

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...
967
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,...
4.7K
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:
27.8K
Pharmacokinetics in Pediatric Patients: Drug Metabolism01:24

Pharmacokinetics in Pediatric Patients: Drug Metabolism

In pediatric care, understanding the nuances of hepatic drug metabolism is crucial, as it significantly differs from that of adults. This divergence is primarily due to the developmental stage of drug-metabolizing enzymes, which affects how medications are processed in the body. In neonates, for instance, the activity of Phase I enzymes—critical for the initial breakdown of drugs—is markedly reduced, functioning at just 20–40% of the levels seen in adults. This reduction poses...
304
Pharmacokinetics in Pediatric Patients: Overview and Drug Absorption01:23

Pharmacokinetics in Pediatric Patients: Overview and Drug Absorption

Understanding the physiological differences in the pediatric population is crucial for effective pharmacotherapy. Neonates, infants, and children exhibit significant variations in gastric pH, gastric emptying time, intestinal transit time, and biliary function. These variations profoundly affect oral drug absorption, necessitating a nuanced approach to pediatric dosing.Neonates present with a unique physiological profile, having a gastric pH greater than 4 and faster and more irregular gastric...
583
Diabetes Mellitus: Overview and Type I Subtype01:22

Diabetes Mellitus: Overview and Type I Subtype

Diabetes mellitus is a chronic metabolic disorder characterized by high blood glucose levels due to inadequate insulin production, insulin resistance, or both. The condition affects millions worldwide and can significantly impact their health and quality of life.
Type 1 diabetes is an autoimmune disease in which the immune system mistakenly attacks and destroys the insulin-producing beta cells in the pancreas. As a result, the body is unable to produce sufficient insulin, and individuals with...
5.7K