Barth syndrome - Definition and Overview

Barth syndrome is a rare genetic disorder that affects at least fifty (~ 70) worldwide families. Today, two are known to live in Australia and a few dozen in the United States, Canada, and Europe. More children can be undiagnosed, but it is recorded that fewer than 10 Barth Syndrome infants are born per year in the U.S. The Syndrome was named after Dr. Peter Barth in the Netherlands for his research and discovery. Protein: acyltransferase-related, G4.5 / TAZ1 / BTHS The BTHS gene is associated with cardiolipin molecules in the electron transport chain and the mitochondrial membrane structure. It is 6,234 bases in length, mRNA of 879 nucleotides, 11 exons/10 introns, and amino acid sequence of 292 with a weight of 33.5 kDa.

Chromosome: Xq28; the long arm of the X chromosome

Mutations: Barth Syndrome is caused by 60% frameshift, stop, or splice-site alterations and 30% change in protein's charge.

Signs and Symptoms

• Metabolism distortion
• Delayed motor skills
• Stamina deficient
• Hypotonia
• Chronic fatigue in skeletal muscle
• Delayed growth
• Cardiomyopathy
• Reduced immune system
• Hypoglycemia
• Diarrhea
• Learning disabilities
• 3-methylglutaconic acid in urine.

External link

http://www.barthsyndrome.org/ Barth Syndrome Foundation, headed by Shelley Bowen

http://www.freewebs.com/wkes2000 Bounce For Barth, headed by Wayneho Kam (site under construction)

http://www.ninds.nih.gov/disorders/barth/barth.htm

http://www.csun.edu/~hcbio033/barth.html

http://www.hopkinsmedicine.org/cmsl/Barth_Summary.html

http://www.rarediseases.org/search/rdbdetail_abstract.html?disname=Barth+Syndrome