barth syndrome

     

Barth synrome (BTHS), also known as 3-Methylglutaconic aciduria type II and Cardiomyopathy-neutropenia syndrome is a rare genetic disorder classified by many signs and symptoms, including metabolism distortion, delayed motor skills, stamina deficiency, hypotonia, chronic fatigue, delayed growth, cardiomyopathy, and compromised immune system. It has been documented in greater than 30 males to date. Family members of the Barth Syndrome Foundation and its affiliates live in the US, Canada, the UK, Europe, Japan, South Africa, Kuwait, Australia. The syndrome is believed to be severely under-diagnosed and may be estimated to occur in 1 out of approximately 200,000 births.

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