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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:
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...
Pathophysiology of Diabetes01:20

Pathophysiology of Diabetes

Diabetes mellitus is a chronic metabolic disorder characterized by hyperglycemia. The four categories of diabetes are type 1 diabetes, type 2 diabetes, other specific types of diabetes, and gestational diabetes.
Type 1 diabetes is characterized by autoimmune-mediated destruction of pancreatic β cells, with environmental factors potentially triggering this process in genetically susceptible individuals. Despite many not having a family history, certain genes increase susceptibility, suggesting a...
Glucose Absorption Into the Small Intestine01:26

Glucose Absorption Into the Small Intestine

Complex carbohydrates consumed cannot be absorbed into the small intestine in their original form. First, they must be hydrolyzed to a monosaccharide form such as glucose or galactose. These monosaccharides are then transported across the intestinal membrane and into the blood via transcellular transport. The intestinal epithelial cells allow the movement of these monosaccharides with a defined 'entry' through membrane transporter proteins present on their apical membrane and 'exit' via the...

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Related Experiment Video

Updated: May 21, 2026

Oral Gavage in Neonatal Mouse Pups and Functional Assessment of Gut Barrier Integrity Using Ussing Chambers
07:18

Oral Gavage in Neonatal Mouse Pups and Functional Assessment of Gut Barrier Integrity Using Ussing Chambers

Published on: January 9, 2026

Problems with the new born screen for galactosaemia.

John I Malone1, Alicia Diaz-Thomas, Kathleen Swan

  • 1Department of Pediatrics, University of South Florida, Tampa, Florida, USA. jmalone@hsc.usf.edu

BMJ Case Reports
|June 14, 2012
PubMed
Summary

Newborn screening for classical galactosaemia is crucial for early detection. Prompt dietary changes, removing lactose and galactose, significantly improve outcomes for affected infants.

Area of Science:

  • Biochemistry
  • Genetics
  • Pediatrics

Background:

  • Newborn screening aims to detect serious genetic disorders in asymptomatic infants before irreversible damage occurs.
  • Classical galactosaemia is a severe inherited metabolic disorder that can lead to liver failure and other complications if not identified early.

Observation:

  • A family experienced two children with classical galactosaemia, with the first child missed by newborn screening, leading to liver failure and transplant.
  • The second child presented with similar symptoms but was identified by newborn screening due to reduced galactose-1-phosphate uridyl transferase activity.

Findings:

  • Early detection through newborn screening and immediate dietary intervention (lactose and galactose restriction) led to significant clinical improvement in the second child.

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  • A critical factor in screening accuracy involves ensuring the patient has only native red blood cells when measuring enzyme activity for inborn genetic defects.

    • Implications:

    • This case highlights the importance of robust newborn screening programs for identifying classical galactosaemia.
    • Physicians must be aware of potential screening test failures, particularly concerning red blood cell integrity, to prevent diagnostic errors and ensure timely treatment.