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

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...
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:
Oligosaccharide Assembly01:24

Oligosaccharide Assembly

Protein glycosylation starts in the ER lumen and continues in the Golgi apparatus. Glycosyltransferases catalyze the addition of sugar molecules or glycosylation of proteins. Usually, these enzymes add sugars to the hydroxyl groups of selected serine or threonine residues to form O-linked glycans or the amino groups of asparagine residues to form N-linked glycans. Different positions on the same polypeptide chain can contain differently linked glycans.
Multiple sugar molecules that may or may...
Genomic Imprinting and Inheritance02:30

Genomic Imprinting and Inheritance

Diploid organisms inherit genetic material through chromosomes from both parents. Copies of the same gene are known as alleles. In most cases, both alleles are simultaneously expressed and allow various cellular processes to function optimally. If one of the alleles is missing or mutated, the expression of the other allele can compensate; however, this is not true for all genes.
The expression of some genes depends on which parent passed the gene to the offspring, through a phenomenon known as...
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,...
Cell Specific Gene Expression01:58

Cell Specific Gene Expression

Multicellular organisms contain a variety of structurally and functionally distinct cell types, but the DNA in all the cells originated from the same parent cells. The differences in the cells can be attributed to the differential gene expression. Liver cells, whose functions include detoxification of blood, production of bile to metabolize fats, and synthesis of proteins essential for metabolism, must express a specific set of genes to perform their functions. Gene expression also varies with...

You might also read

Related Articles

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

Sort by
Same author

De novo mitogenome assembly and phylogenetic implications of the first Indian yak breed-Arunachali (Bos or Poephagus grunniens L.).

Molecular biology reports·2026
Same author

A comprehensive full-length transcriptome atlas across multiple organs of an Indian yak breed-Arunachali.

Mammalian genome : official journal of the International Mammalian Genome Society·2026
Same author

Pneumococcal meningitis among hospitalised children after introduction of pneumococcal conjugate vaccine in India: a sentinel hospital surveillance (2019-2022).

The Lancet regional health. Southeast Asia·2026
Same author

Joint Statement on Triple Elimination of the Vertical Transmission of Human Immunodeficiency Virus, Syphilis, and Hepatitis B Initiative of West Bengal: Indian Public Health Association, West Bengal Academy of Pediatrics, Neonatology Society of West Bengal, Bengal Obstetric and Gynecological Society, Association of Physicians of India, Indian Association of Dermatologists, Venereologists and Leprologists, West Bengal.

Indian journal of public health·2026
Same author

Development and Validation of Indian Children Length-based Tape (InChiTape) for Use in Critically Sick Children.

Indian journal of critical care medicine : peer-reviewed, official publication of Indian Society of Critical Care Medicine·2026
Same author

Genetic estimates of growth traits in a small Yak population using Bayesian approach.

Tropical animal health and production·2026

Related Experiment Video

Updated: Jun 10, 2026

In Vitro Enzyme Measurement to Test Pharmacological Chaperone Responsiveness in Fabry and Pompe Disease
10:16

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

Published on: December 20, 2017

Generalized epimerase deficiency galactosemia.

Mihir Sarkar1, Some Suvra Bose, Gobinda Mondal

  • 1Department of Pediatrics, Medical College and Hospital, 88, College Street, Kolkata, India. mihir_iway_2005@sify.com

Indian Journal of Pediatrics
|August 21, 2010
PubMed
Summary
This summary is machine-generated.

A rare form of galactosemia caused by uridine diphosphate galactose-4-epimerase (GALE) deficiency presented with jaundice and failure to thrive. Dietary changes reversed symptoms, indicating GALE deficiency is treatable.

More Related Videos

Tracing Gene Expression Through Detection of β-galactosidase Activity in Whole Mouse Embryos
08:42

Tracing Gene Expression Through Detection of β-galactosidase Activity in Whole Mouse Embryos

Published on: June 26, 2018

Generation of Null Mutants to Elucidate the Role of Bacterial Glycosyltransferases in Bacterial Motility
12:29

Generation of Null Mutants to Elucidate the Role of Bacterial Glycosyltransferases in Bacterial Motility

Published on: March 11, 2022

Related Experiment Videos

Last Updated: Jun 10, 2026

In Vitro Enzyme Measurement to Test Pharmacological Chaperone Responsiveness in Fabry and Pompe Disease
10:16

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

Published on: December 20, 2017

Tracing Gene Expression Through Detection of β-galactosidase Activity in Whole Mouse Embryos
08:42

Tracing Gene Expression Through Detection of β-galactosidase Activity in Whole Mouse Embryos

Published on: June 26, 2018

Generation of Null Mutants to Elucidate the Role of Bacterial Glycosyltransferases in Bacterial Motility
12:29

Generation of Null Mutants to Elucidate the Role of Bacterial Glycosyltransferases in Bacterial Motility

Published on: March 11, 2022

Area of Science:

  • Biochemistry
  • Genetics
  • Pediatrics

Background:

  • Galactosemia comprises inherited enzyme deficiencies in galactose metabolism, including GALT, GALK, and GALE.
  • Epimerase deficiency (GALE) represents the rarest and least understood form of galactosemia.

Observation:

  • A one-month-old infant presented with progressive cholestatic jaundice and failure to thrive.
  • This presentation was consistent with a rare form of galactosemia due to epimerase deficiency.

Findings:

  • Decreased epimerase levels were confirmed in the patient's RBC hemolysate.
  • A galactose-restricted diet and vitamin supplementation led to the reversal of clinical signs and normalization of liver function.

Implications:

  • This case highlights that galactosemia due to GALE deficiency is a treatable condition.
  • Early diagnosis and dietary management can prevent severe clinical manifestations and developmental delays.