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Marfan syndrome is a genetic disorder that affects the bodyâs connective tissue. Connective tissue holds all the bodyâs cells, organs and tissue together. It also plays an important role in helping the body grow and develop properly.Connective tissue is made up of proteins.The protein that plays a role in Marfan syndrome is called fibrillin-1. Marfan syndrome is caused by a defect (or mutation) in the gene that tells the body how to make fibrillin-1.This mutation results in an increase in a protein called transforming growth factor beta, or TGF-Î².he protein that plays a role in Marfan syndrome is called fibrillin-1. Marfan syndrome is caused by a defect (or mutation) in the gene that tells the body how to make fibrillin-1.
Phenylketonuria (PKU) is an autosomal recessive metabolic disorder caused by mutational inactivation of the Phenylalanine hydroxylase (PAH) gene. Missense mutations are the most common PAH mutation type detected in PKU patients worldwide.henylketonuria (PKU) is an autosomal recessive metabolic disorder caused by mutational inactivation of the Phenylalanine hydroxylase (PAH) gene. Missense mutations are the most common PAH mutation type detected in PKU patients worldwide.