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Barthov syndróm

Č. záznamu	d056889
Dátum	06.06.2025
Typ	M - MESH
Tematický termín	Barthov syndróm
Pozri tiež	(Skutočné meno) komora ľavá nekompaktná izolovaná
MDT	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
Poznámka	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.

predmetové heslo

Počet záznamov: 1