What is Barth syndrome?

Also known as: 3-methylglutaconic aciduria type 2, 3 methylglutaconic aciduria (type II), BTHS, cardioskeletal myopathy with neutropenia and abnormal mitochondria, DNAJC19 defect, MGA (type II), TAZ defect.

Barth syndrome is one of a rare group of metabolic genetic disorders that often present with symptoms at birth or within the first few months of life characterized by the baby being smaller than normal (which may or may not last till adulthood), having an enlarged weakened heart, (dilated cardiomyopathy), weakness (skeletal myopathy) of muscles used for movement, and recurrent infections due to a low white blood cell count (neutropenia).

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Reviewed by: Jack Wolfsdorf, MD, FAAP

This page was last updated on: 1/29/2019 3:21:13 PM