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Related Concept Videos

Renal Tubule and Collecting Duct01:24

Renal Tubule and Collecting Duct

The renal tubule is divided into three parts: the proximal convoluted tubule (PCT), the Loop of Henle (LOH), and the distal convoluted tubule (DCT).
Proximal Convoluted Tubule (PCT):
The PCT is the initial segment of the renal tubule, extending from the Bowman's capsule that encloses the glomerulus. Its convoluted structure and microvilli-lined cells increase the surface area for reabsorption. The PCT reabsorbs glucose, amino acids, sodium, and water from the filtrate, ensuring essential...
Microtubules in Signaling01:22

Microtubules in Signaling

The primary cilium, made up of microtubules, acts as antennae on the cell surfaces for relaying external stimuli into the cells. These fine hair-like structures are present, generally one per cell. These are non-motile cilia in a 9+0 microtubules arrangement, where the central pair of microtubules are absent. The primary cilia arise from the basal body embedded in the cell membrane. Intraflagellar transport (IFT) carries requisite proteins from the cytoplasm to the cilium because the primary...
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:
Notch Signaling Pathway03:14

Notch Signaling Pathway

The Notch signaling pathway is a major intracellular signaling pathway that is highly conserved over a broad spectrum of metazoan species. It stands unique from other intracellular signaling mechanisms in animals because notch protein itself acts as the receptor as well as the primary signaling molecule.
The Notch gene came into the limelight in 1914 after the discovery that its mutation in Drosophila melanogaster leads to a serrated (or "notched") wing margin phenotype. It was not until 1985...
Chronic Kidney Disease II: Clinical Manifestations01:24

Chronic Kidney Disease II: Clinical Manifestations

Chronic Kidney Disease (CKD) progressively impairs multiple body systems due to the accumulation of uremic toxins, which disrupt cellular functions across various organs.Neurologic symptomsNeurologic symptoms often arise early in CKD, as uremic toxin buildup drives changes in cognitive and motor functions. Patients frequently experience fatigue, headache, confusion, difficulty concentrating, and, in severe cases, seizures. Peripheral neuropathy commonly manifests as burning sensations in the...
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,...

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Related Experiment Video

Updated: Jun 4, 2026

Fingerprinting Cardiolipin in Leukocytes by Mass Spectrometry for a Rapid Diagnosis of Barth Syndrome
06:48

Fingerprinting Cardiolipin in Leukocytes by Mass Spectrometry for a Rapid Diagnosis of Barth Syndrome

Published on: March 23, 2022

Fanconi-Bickel syndrome.

Mohandas Nair K1, Osamu Sakamoto, Sujatha Jagadeesh

  • 1Department of Pediatrics, Medical College, Calicut, Kerala, India.

Indian Journal of Pediatrics
|February 18, 2011
PubMed
Summary

This study reports the first genetically confirmed case of Fanconi-Bickel syndrome in India, a rare glycogen storage disease. The findings highlight a specific Glut 2 gene mutation responsible for the condition in a young patient.

Area of Science:

  • Biochemistry
  • Genetics
  • Pediatrics

Background:

  • Fanconi-Bickel syndrome (FS) is a rare autosomal recessive metabolic disorder.
  • It is caused by mutations in the GLUT2 gene, affecting glucose and galactose transport.
  • FS is a type of glycogen storage disease (GSD) with significant clinical manifestations.

Observation:

  • A 4-year-old Indian girl presented with severe growth retardation, genu varum (bowed legs), and hepatomegaly (enlarged liver).
  • Clinical investigations revealed severe hypophosphatemic rickets and Fanconi syndrome, characterized by renal tubular dysfunction.

Findings:

  • Molecular analysis identified a homozygous deletion insertion mutation in the GLUT2 gene.
  • This genetic finding confirms the diagnosis of Fanconi-Bickel syndrome in the patient.

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Identification of the Source of Secreted Proteins in the Kidney by Brefeldin A Injection
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Last Updated: Jun 4, 2026

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Published on: March 23, 2022

Isolation, Characterization, And High Throughput Extracellular Flux Analysis of Mouse Primary Renal Tubular Epithelial Cells
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Isolation, Characterization, And High Throughput Extracellular Flux Analysis of Mouse Primary Renal Tubular Epithelial Cells

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Identification of the Source of Secreted Proteins in the Kidney by Brefeldin A Injection
10:15

Identification of the Source of Secreted Proteins in the Kidney by Brefeldin A Injection

Published on: November 10, 2021

  • This is the first mutation-proven case of Fanconi-Bickel syndrome reported from India.

    • Implications:

    • This case expands the geographic and genetic understanding of Fanconi-Bickel syndrome.
    • Early diagnosis and genetic confirmation are crucial for managing GSDs.
    • Further research into GLUT2 mutations can aid in developing targeted therapies for FS.