Barth Syndrome

Overview

Rare congenital X-linked disorder of lipid metabolism. Barth syndrome is transmitted in an X-linked recessive pattern. The syndrome is characterized by muscular weakness, growth retardation, DILATED CARDIOMYOPATHY, variable NEUTROPENIA, 3-methylglutaconic aciduria (type II) and decreases in mitochondrial CARDIOLIPIN level. Other biochemical and morphological mitochondrial abnormalities also exist.

This information is general and should not be treated as medical advice. Always speak directly with a qualified healthcare professional before making decisions about treatment, diagnosis, procedures, medicines or care.

Quick facts about Barth Syndrome

Topic type

Condition

Category

Cardiology

MeSH classification

C14.240.400.172|C14.280.400.172|C16.131.077.121|C16.131.240.400.172|C16.320.322.068|C16.320.565.398.224|C18.452.584.563.224|C18.452.648.398.224

Preparing for an appointment about Barth Syndrome

If you are speaking with a healthcare professional about Barth Syndrome, it can help to prepare a few details in advance.

• Write down your symptoms and when they started.
• Bring details of any medicines, supplements or previous treatments.
• Ask what tests or assessments may be needed.
• Ask what treatment or management options may be suitable.
• Ask when you should seek urgent medical help or follow-up care.

Finding care related to Barth Syndrome

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