Number of the records: 1
Barthov syndróm
Record number d056889 Date 06.06.2025 Type M - MESH Topical term Barthov syndróm See also (Skutočné meno) komora ľavá nekompaktná izolovaná
UDC C14.240.400.172C14.280.400.172C16.131.077.121C16.131.240.400.172C16.320.322.068C16.320.565.398.224C18.452.584.563.224C18.452.648.398.224 Note 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. subject heading
Number of the records: 1