Barth Syndrome

Barth syndrome is a genetic disorder occurring in 1 in 300000 live births. It is a disorder found in males only. Medical research indicates that most male children identified with this syndrome rarely have a life expectancy beyond 3 years although there have been patients reaching adolescence. Barth syndrome was named after Dr. Peter Barth who conducted extensive studies on the syndrome in the 1980s. Barth syndrome is not limited to any one race or group and occurs across different ethnicities.

Barth syndrome (BTHS) is a serious X-linked genetic disorder that is associated with cardiomyopathy, neutropenia, skeletal muscle weakness, growth delay, exercise intolerance, and other diverse biochemical abnormalities.  Other signs are fatigue, hypoglycemia (low blood sugar), poor feeding, lethargy, and more. Almost all children born with Barth syndrome are found to have clinically significant signs of muscular hypotonia and weakness.

Symptoms of Barth syndrome:

The main symptoms noticed in Barth syndrome are:

  1. Weak heart muscle and an enlarged heart.
  2. Low white blood cell count and lower immunity levels. Most Barth syndrome patients Low blood cholesterol levels.
  3. Weak muscles, and fatigue on using muscles. This is because, in Barth’s syndrome, a cellular deficiency adversely affects the body’s ability to produce energy.
  4. below average physical parameters of weight and height.
  5. above-average levels of methylglucatonic acid in urine.
  6. Lower than average levels of cardiolipin in blood

Genetic background to Barth Syndrome:

Females do not exhibit signs of this syndrome but they carry the recessive gene which they pass on to their offspring. Thus the mother is a carrier while her male offspring would have a 50 percent chance of suffering from this syndrome, while her female offspring have a 50 percent chance of being a carrier. All-female offspring of a male with Barth syndrome will be carriers without affecting his sons. The defective gene can only be passed from mother to son and causes a disorder of lipid metabolism which is a potentially life-threatening condition.


Tests for Diagnosis:

The heart is the organ most affected by Barth syndrome and that is why early diagnosis helps save lives. Early diagnosis can extend the life of a child with Barth syndrome by management of the clinical problems of cardiac arrest and heart failure, arrhythmia, infections fatigue, immune deficiency, and osteoporosis associated with Barth syndrome.

Tests prescribed include:

  1. Urine analysis
  2. Complete blood count
  3. Cardiolipin analysis of cells
  4. ECG


There is no specific cure for Barth syndrome as of date. Genetic studies have helped in isolating the gene thought of to cause this disorder. Genetic testing for carriers is also being promoted.

The treatment is more to alleviate the problems associated with cardiac weakness and immunity issues. Expert advice on nutritional intake and dietary monitoring may help build up general health and resistance to infections.

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