This week’s Genetics and Health featured blog is Fight Pompe! by new b5media blogger, Juan Magdaraog, who co-writes The After Mac. Juan has been documenting his life with Pompe disease, a metabolic disorder that is caused by a deficiency in alpha-glucosidase.
Pompe disease is a rare genetic disorder causes “progressive muscle weakness throughout the body and affects various body tissues, particularly in the heart, skeletal muscles, liver, and nervous system.” When both parents are carriers of the recessive disease allele, based on autosomal inheritance, their children have a 1 in 4 chance of having Pompe disease.
Juan first …read more