Related Experiment Video
Updated: Jul 15, 2026
06:48
Fingerprinting Cardiolipin in Leukocytes by Mass Spectrometry for a Rapid Diagnosis of Barth Syndrome
Published on: March 23, 2022
Fanconi-Bickel syndrome.
Sunil Karande1, Nilesh Kumbhare, Madhuri Kulkarni
1Developmental Clinic, Department of Pediatrics, Lokmanya Tilak Municipal Medical College and General Hospital, Sion, Mumbai 400 022, Maharashtra, India. karandesunil@yahoo.com
Indian Pediatrics
|April 7, 2007
Summary
This report details the first Indian case of Fanconi-Bickel syndrome, a rare glycogen storage disease. The patient, a 17-month-old girl, exhibited growth failure, enlarged liver, and bone abnormalities.
Area of Science:
- Biochemistry
- Pediatrics
- Genetics
Background:
- Fanconi-Bickel syndrome (GSB) is a rare autosomal recessive metabolic disorder.
- It is caused by mutations in the GLUT10 gene, affecting glucose transport.
- GSB is characterized by impaired glucose and galactose metabolism.
Observation:
- A 17-month-old Indian female presented with severe growth retardation and abdominal distention.
- Clinical signs included a distinctive "doll-like" facial appearance, massive hepatomegaly, and rickets.
- Proximal renal tubular dysfunction and hypophosphatemic rickets were identified.
Findings:
- Liver biopsy confirmed significant glycogen accumulation within hepatocytes.
- Laboratory results indicated severe hypophosphatemia and proximal renal tubular dysfunction.
- The case represents the first documented instance of Fanconi-Bickel syndrome in India.
Implications:
- This case highlights the importance of recognizing GSB in infants with failure to thrive and metabolic derangements.
- Early diagnosis and management can potentially mitigate long-term complications.
- Further research into GSB genetics and treatment strategies in diverse populations is warranted.
Related Concept Videos
01:24Renal 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...
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...
01:22Microtubules 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...
01:27Glucose 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:
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:
03:14Notch 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...
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...
01:24Chronic 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...
01:24Nephrotic Syndrome I : Introduction
Nephrotic Syndrome is a chronic kidney disorder defined by clinical findings such as severe proteinuria, hypoalbuminemia, hyperlipidemia, and edema. These symptoms result from damage to the glomeruli, the kidney’s filtering units, increasing their permeability to proteins.Definition and Meaning:Proteinuria, defined as the loss of more than 3.5 grams of protein per day in adults, is a crucial feature of nephrotic syndrome. This condition is often accompanied by edema, the accumulation of fluid...