Barth syndrome

info · Genetic · ICD-10: E78.71

A 3-methylglutaconic aciduria that has_material_basis_in X-linked inheritance of the tafazzin gene and is characterized by decreased production of an enzyme required to produce cardiolipin.

Signs and symptoms

Hypochromic microcytic anemia
Fair hair
Motor delay
Failure to thrive
Recurrent bronchitis
Broad forehead
Round face
Exercise intolerance
Dilated cardiomyopathy
Full cheeks

Also known as: 3-methylglutaconicaciduria type 2; 3-methylglutaconicaciduria type II; MGA Type 2; MGA type II