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Related Concept Videos

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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Cardiomyopathy III: Hypertrophic Cardiomyopathy

Hypertrophic cardiomyopathy, or HCM, is an autosomal dominant genetic disorder characterized by asymmetric left ventricular hypertrophy without ventricular dilation. It is more common in men and is typically diagnosed in young, athletic adults.EtiologyHCM is primarily genetic and is caused by mutations in genes encoding sarcomeric proteins. Researchers have identified over 1400 mutations across at least 11 different genes. Among these, the most frequently occurring mutations are found in the...
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Rheumatic heart disease or RHD is a chronic condition that results from rheumatic fever, causing permanent damage to the heart valves.Etiology and Risk FactorsIt primarily arises from rheumatic fever, an inflammatory disease that can develop after untreated or inadequately treated group A streptococcal (GAS) pharyngitis. Streptococcus spreads through direct contact with oral or respiratory secretions. While the bacteria are the causative agents, factors like malnutrition, overcrowding, poor...
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Rheumatic Heart Disease II: Clinical Manifestations and Diagnostic Studies

The key clinical manifestations of Rheumatic heart disease (RHD) include several distinct cardiac symptoms.Carditis, a hallmark of acute rheumatic fever, involves inflammation of the heart's endocardium, myocardium, and pericardium. Chronic RHD often results from recurrent episodes of carditis. Its symptoms include the following:Murmurs are caused by valvular damage, especially to the mitral and aortic valves. Mitral stenosis or regurgitation is common, with characteristic heart murmurs...
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Updated: Jun 18, 2026

Anti-Nuclear Antibody Screening Using HEp-2 Cells
13:01

Anti-Nuclear Antibody Screening Using HEp-2 Cells

Published on: June 23, 2014

Hartnup disease.

A B Patel1, A S Prabhu

  • 1Department of Pediatrics, Clinical Epidemiology Unit, Indira Gandhi Government Medical College, Nagpur, India. dr_apatel@yahoo.com

Indian Journal of Dermatology
|December 8, 2009
PubMed
Summary
This summary is machine-generated.

This case study highlights a rare niacin deficiency in a child, presenting with skin issues, ataxia, and diarrhea. The deficiency was linked to a genetic defect in neutral amino acid transport, affecting tryptophan absorption.

Keywords:
Hartnup diseasepellagratryptophan

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Last Updated: Jun 18, 2026

Anti-Nuclear Antibody Screening Using HEp-2 Cells
13:01

Anti-Nuclear Antibody Screening Using HEp-2 Cells

Published on: June 23, 2014

Area of Science:

  • Biochemistry
  • Clinical Medicine
  • Genetics

Background:

  • Niacin deficiency (pellagra) typically presents with dermatitis, diarrhea, and dementia.
  • Maize-based diets are often implicated due to low tryptophan bioavailability.
  • This case presents an atypical etiology for niacin deficiency.

Purpose of the Study:

  • To investigate the underlying cause of niacin deficiency in a pediatric patient.
  • To explore the role of amino acid transport defects in nutrient deficiencies.
  • To document a rare case of pellagra secondary to neutral aminoaciduria.

Main Methods:

  • Clinical presentation and biochemical analysis.
  • Assessment of urinary amino acid excretion.
  • Evaluation of potential genetic defects in amino acid transporters.

Main Results:

  • The patient exhibited the classic triad of pellagra: skin eruptions, ataxia, and mental changes, along with diarrhea.
  • Analysis revealed neutral aminoaciduria, indicating a transport defect.
  • This defect impaired the intestinal and renal transport of tryptophan and other neutral amino acids.

Conclusions:

  • The patient's niacin deficiency was attributed to a defective neutral amino acid transporter.
  • This highlights a genetic basis for pellagra, distinct from purely nutritional causes.
  • Early identification of amino acid transport defects is crucial for managing such deficiencies.