3-methylglutaconic aciduria type 2
A rare x-linked syndrome caused by mutations in taz1 gene. Signs and symptoms include cardiomyopathy, neutropenia, muscle weakness and atrophy, growth delay, cardiolipin deficiency and 3-methylglutaconic aciduria.
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.
E78.71 is a billable/specific ICD-10-CM code that can be used to indicate a diagnosis for reimbursement purposes.
The 2023 edition of ICD-10-CM E78.71 became effective on October 1, 2022.
This is the American ICD-10-CM version of E78.71 – other international versions of ICD-10 E78.71 may differ.