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Syndrome

Barth Syndrome

AMW:DIS:140007

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.

Pathology clinical
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Barth Syndrome has parent Abnormalities, Multiple
Barth Syndrome has parent Genetic Diseases, X-Linked
Barth Syndrome has parent Heart Defects, Congenital
Barth Syndrome has parent Lipid Metabolism, Inborn Errors

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