Barth Syndrome: Symptoms & Causes - Cleveland Clinic
What are the symptoms of Barth syndrome? Symptoms vary and may include: Unusually high levels of an organic acid in the urine (3-methylglutaconicaciduria). Enlargement of the heart’s lower chambers (dilated cardiomyopathy). Frequent bacterial infections. Growth delays. Heart muscle weakness (cardiomyopathy). Low white blood cell counts ...
Barth syndrome | About the Disease | GARD - Genetic and Rare …
Barth syndrome (BTHS) is an inborn error of phospholipid metabolism characterized by dilated cardiomyopathy (DCM), skeletal myopathy, neutropenia, growth delay and organic aciduria. Summary.
Barth syndrome - MedlinePlus
Barth syndrome is a rare condition characterized by an enlarged and weakened heart (dilated cardiomyopathy), weakness in muscles used for movement (skeletal myopathy), recurrent infections due to small numbers of white blood cells (neutropenia), and short stature.
Barth Syndrome - Boston Children's Hospital
Signs and symptoms of Barth syndrome include: Skeletal muscle abnormalities; Delayed gross motor skill development; Weak muscle tone; Frequent infections; Failure to thrive in infants and other abnormalities in growth; Exercise intolerance or lack of stamina
Barth Syndrome: Symptoms, Causes, and Treatment - Verywell …
2024年4月23日 · Barth syndrome, also known as 3-methylglutaconic aciduria type II, is a rare and potentially fatal X-linked genetic disorder. Barth syndrome is therefore carried by females and can be passed on to children, but its symptoms and diagnosis almost always occur in males.
What is Barth Syndrome? : Barth Syndrome : Barth Syndrome …
Barth syndrome (BTHS; OMIM #302060) is a serious X-linked genetic disorder, primarily affecting males. It is caused by a mutation in the tafazzin gene (TAZ, also called G4.5), resulting in an inborn error of lipid metabolism.
Barth Syndrome - Symptoms, Causes, Treatment | NORD
2019年7月30日 · Some of the symptoms of the condition include enlarged heart, low blood cell count, weakness of muscles, and fatigue. Additionally, there can be increased levels of chemicals like 3-methyglutaconic acid and 2-ethyl hydracrylic acid in the urine or blood.
Barth syndrome - Wikipedia
Barth Syndrome is manifested in a variety of ways at birth. A majority of patients are hypotonic at birth; show signs of cardiomyopathy within the first few months of life; and experience a deceleration in growth in the first year, despite adequate nutrition.
Barth Syndrome - GeneReviews® - NCBI Bookshelf
2014年10月9日 · Barth syndrome is characterized in affected males by cardiomyopathy, neutropenia, skeletal myopathy, prepubertal growth delay, and distinctive facial gestalt (most evident in infancy); not all features may be present in a given affected male.
Barth Syndrome: Causes, Symptoms, and Treatment Options
Symptoms of Barth Syndrome. Barth Syndrome manifests through a variety of symptoms that can vary significantly in severity among affected individuals. Key symptoms include: Cardiomyopathy
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