Barth syndrome is a rare X-linked recessive disorder of infancy characterized by myopathy, cardiomyopathy [DS:H00294], cyclic neutropenia, short stature, low cholesterol, and mitochondrial abnormalities. Barth syndrome is due to mutations in the TAZ gene, the exact function of which is unknown but there are indications that it is directly involved in the metabolism of cardiolipin localized in the inner mitochondrial membrane.
Category
Inherited metabolic disorder
Brite
Human diseases in ICD-11 classification [BR:br08403]
05 Endocrine, nutritional or metabolic diseases
Metabolic disorders
Inborn errors of metabolism
5C50 Inborn errors of amino acid or other organic acid metabolism
H00654 Barth syndrome
