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

Barrett Esophagus-I: Introduction01:21

Barrett Esophagus-I: Introduction

Barrett's esophagus is a medical condition where the esophageal mucosa is significantly damaged by stomach acid or other digestive fluids, often due to long-term exposure associated with gastroesophageal reflux disease (GERD). In GERD, a weakened or abnormally relaxed lower esophageal sphincter allows stomach acid to flow persistently into the esophagus.
This constant acid exposure transforms the esophagus's pink mucosal lining (stratified squamous epithelium) into a type of lining more similar...
Barrett Esophagus-II: Clinical Manifestations and Management01:21

Barrett Esophagus-II: Clinical Manifestations and Management

Individuals with Barrett's esophagus are often asymptomatic, but they may experience symptoms commonly associated with GERD, such as heartburn and acid regurgitation. Additional symptoms can include difficulty swallowing, chest pain, unintentional weight loss, blood in the stool (which may appear black, tarry, or bloody), and episodes of vomiting.
To diagnose Barrett's esophagus, healthcare providers often recommend an endoscopy for those showing symptoms of acid reflux. The procedure entails...
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...
Pedigree Analysis01:35

Pedigree Analysis

Overview
Pleiotropy01:33

Pleiotropy

Pleiotropy is the phenomenon in which a single gene impacts multiple, seemingly unrelated phenotypic traits. For example, defects in the SOX10 gene cause Waardenburg Syndrome Type 4, or WS4, which can cause defects in pigmentation, hearing impairments, and an absence of intestinal contractions necessary for elimination. This diversity of phenotypes results from the expression pattern of SOX10 in early embryonic and fetal development. SOX10 is found in neural crest cells that form melanocytes,...
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...

You might also read

Related Articles

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

Sort by
Same author

A Diagnostic Conundrum in Fumarase Deficiency: Expanding the Clinical and Genetic Spectrum in a Cohort of Pediatric and Adult Patients.

American journal of medical genetics. Part A·2026
Same author

Activating PRKG1 Variant Enhances Smooth Muscle Cell Deformability to Cause Aortopathy.

JACC. Basic to translational science·2026
Same author

A child presenting with saxophone penis.

Clinical and experimental dermatology·2025
Same author

The importance of identifying pseudohypertriglyceridaemia.

Annals of clinical biochemistry·2025
Same author

Non-isolated tetralogy of fallot (TOF+): exome sequencing efficacy and phenotypic expansions.

European journal of human genetics : EJHG·2025
Same author

Glycerol intoxication syndrome in young children, following the consumption of slush ice drinks.

Archives of disease in childhood·2025
Same journal

Patient-driven surveys of mucopolysaccharidoses revealed patient-reported outcomes in the Japan MPS patient and family group.

Orphanet journal of rare diseases·2026
Same journal

Mapping the landscape of treatable inborn errors of metabolism: a systematic gene-level evaluation based on the ICIMD classification.

Orphanet journal of rare diseases·2026
Same journal

Cognitive function in adult NF1 patients without other cognitive disorders: a cross-sectional study.

Orphanet journal of rare diseases·2026
Same journal

Real-world insights into neurodevelopmental outcomes amongst people with congenital hyperinsulinism.

Orphanet journal of rare diseases·2026
Same journal

Care of patients with Phenylketonuria (PKU) in Germany - a claims data analysis from 2013 to 2023.

Orphanet journal of rare diseases·2026
Same journal

A lifespan pooled analysis of 832 cases: characterizing the lifespan profile of clinical presentations and comorbidities in congenital pulmonary airway malformation.

Orphanet journal of rare diseases·2026
See all related articles

Related Experiment Video

Updated: May 14, 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

Barth syndrome.

Sarah L N Clarke1, Ann Bowron, Iris L Gonzalez

  • 1NHS Specialised Services Barth Syndrome Service, Royal Hospital for Children, Upper Maudlin St, Bristol, BS2 8BJ, UK. colin.steward@uhbristol.nhs.uk

Orphanet Journal of Rare Diseases
|February 13, 2013
PubMed
Summary
This summary is machine-generated.

Barth syndrome (BTHS) is a rare X-linked disorder affecting multiple systems, primarily the heart and muscles. Early diagnosis through cardiolipin testing and TAZ sequencing is crucial for timely management and improved outcomes.

More Related Videos

In Vivo Modeling of the Morbid Human Genome using Danio rerio
12:31

In Vivo Modeling of the Morbid Human Genome using Danio rerio

Published on: August 24, 2013

Related Experiment Videos

Last Updated: May 14, 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

In Vivo Modeling of the Morbid Human Genome using Danio rerio
12:31

In Vivo Modeling of the Morbid Human Genome using Danio rerio

Published on: August 24, 2013

Area of Science:

  • Genetics
  • Biochemistry
  • Pediatrics

Background:

  • Barth syndrome (BTHS) is a rare X-linked genetic disorder.
  • It is characterized by cardiomyopathy, skeletal myopathy, neutropenia, and 3-methylglutaconic aciduria.
  • The disorder is caused by mutations in the tafazzin (TAZ) gene, affecting cardiolipin remodeling.

Purpose of the Study:

  • To highlight the multi-systemic nature of Barth syndrome.
  • To emphasize the diagnostic challenges posed by its variable presentation.
  • To discuss current diagnostic and management strategies for BTHS.

Main Methods:

  • Review of clinical features and genetic basis of Barth syndrome.
  • Discussion of diagnostic methods including cardiolipin testing and TAZ gene sequencing.
  • Overview of management approaches, including medical therapy and G-CSF.

Main Results:

  • BTHS presents with a wide spectrum of clinical features, often leading to under-diagnosis.
  • TAZ gene mutations impair cardiolipin remodeling, impacting mitochondrial function.
  • Cardiolipin testing and TAZ sequencing offer definitive diagnostic capabilities.

Conclusions:

  • Barth syndrome is a multi-system disorder requiring a multidisciplinary approach.
  • Early and accurate diagnosis through genetic and biochemical testing is vital.
  • Effective management strategies can improve patient outcomes and longevity.