Barth syndrome

Introduction: Barth syndrome

Description of Barth syndrome

Barth syndrome (medical condition): A rare genetic disorder where the body's cells are unable to make sufficient energy resulting in an accumulation in the body of 3-methylglutaconic acid. Type 2 is characterized by its affects on the heart.

See also:

Barth Syndrome:
  »Introduction: Barth Syndrome
  »Symptoms of Barth Syndrome

Barth syndrome: [MIM*302060] an X-linked syndrome characterized by poor growth, neutropenia, cardiomyopathy, and excess excretion of 3-methylglutaconic acid in the urine; some patients also show skeletal muscle weakness.
Source: Stedman's Medical Spellchecker, © 2006 Lippincott Williams & Wilkins. All rights reserved.

Barth syndrome: Rare Disease

Office of Rare Diseases (ORD) of the National Institutes of Health (NIH)

Barth syndrome is listed as a "rare disease" by the Office of Rare Diseases (ORD) of the National Institutes of Health (NIH). This means that Barth syndrome, or a subtype of Barth syndrome, affects less than 200,000 people in the US population.
Source - National Institutes of Health (NIH)

Ophanet

Ophanet, a consortium of European partners, currently defines a condition rare when if affects 1 person per 2,000. They list Barth syndrome as a "rare disease".

Source - Orphanet

Barth syndrome as a Disease

Barth syndrome (medical condition): See Barth Syndrome (disease information).
  »Introduction: Barth Syndrome
  »Symptoms of Barth Syndrome

More information on medical condition: Barth Syndrome:

• Information about Barth Syndrome
• Basic Summary for Barth Syndrome
• Symptoms of Barth Syndrome
• Complications of Barth Syndrome

Terms associated with Barth syndrome:

Terms Similar to Barth syndrome:

• 3-Methylglutaconic aciduria type 2
• Cardiomyopathy-Neutropenia syndrome

Source: Diseases Database

• 3-methylglutaconicaciduria type II
• BTHS
• Dilated cardiomyopathy, neutropenia, skeletal myopathy, and abnormal mitochondria
• MGA type 2

Source - NIH

External links related to: Barth syndrome

• OMIM - BARTH SYNDROME; BTHS

Source: Diseases Database

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Medical dictionaries:

• Medical dictionary,
• Medical Acronymns/Abbreviations

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