Barth syndrome

Barth syndrome is manifested in a variety of ways at birth.

To date, Barth syndrome is found exclusively in males.

A typical example is Barth syndrome and the responsible gene, tafazzin.

Barth syndrome is a common name for 3-methylglutaconic aciduria type II.

This family also includes tafazzin, the Barth syndrome gene.

Barth syndrome is a rare genetic disorder that was recognised in the 1970s to cause infantile death.

Cardiolipin treats the symptoms of Barth syndrome and prevents infections.

Barth syndrome is transmitted as an X-linked recessive trait.

Barth syndrome.

Unlike Barth syndrome, Tangier disease is mainly caused by abnormal enhanced production of CL.

Barth Syndrome Trust (United Kingdom & Europe)

A variety of disorders can be caused by nuclear mutations of oxidative phosphorylation enzymes, such as coenzyme Q10 deficiency and Barth syndrome.

Barth syndrome; metabolism distortion, delayed motor skills, stamina deficiency, hypotonia, chronic fatigue, delayed growth, cardiomyopathy, and compromised immune system.

Barth syndrome (BTHS), also known as 3-Methylglutaconic aciduria type II, is an X-linked genetic disorder.

Barth Syndrome at National Organization for Rare Disorders (NORD)

Barth syndrome, Emery-Dreifuss muscular dystrophy, myotubular myopathy, genes responsible for NCC are located also in the area that cause these conditions.

The Barth Syndrome Foundation sponsors a competitive Research Grant Program and International Conferences for affected families, attending physicians, and scientists every two years.

The main features of Barth syndrome include a weakened and enlarged heart (dilated cardiomyopathy), recurrent infections due to low numbers of white blood cells (neutropenia), skeletal problems, and delayed growth.

Although Barth syndrome typically becomes apparent during infancy or early childhood, the age of onset, associated symptoms and findings, and disease course varies considerably, even among affected members of the same family (kindred).

Family members of the Barth Syndrome Foundation and its affiliates live in the US, Canada, the UK, Europe, Japan, South Africa, Kuwait, and Australia.

Mutations in tafazzin that cause Barth syndrome span many different categories: missense, nonsense, deletion, frameshift, splicing (see Human Tafazzin (TAZ) Gene Mutation & Variation Database).

The Barth Syndrome Foundation (BSF), together with its affiliates, are the only worldwide volunteer organizations dedicated to saving lives through education, advances in treatment, and finding a cure for Barth syndrome.

Barth syndrome, a cause of 3-MGC aciduria and cardiomyopathy, would be an unlikely diagnosis in our patient primarily due to absence of symptoms in female carriers secondary to presumed skewing of X-inactivation and lack of growth retardation and neutropenia.