Cystic Fibrosis- Thick mucous, one single gene for protein on cell membrane and one Chloride ion is altered, causes mucous to increase
PKU- More common in people descended from Western Europe; one single gene is missing. The gene that codes for one enzyme that digests phenylalanine. Amino acid is in most protein
Hemophilia- Group of blood-clotting disorders caused by a failure to form clotting factors VIII, IX, or XI
Albinism- Born with no skin, pigmentation, melanin in the skin and eyes, cannot go out in the sun.
Tay Sachs Syndrome- Test with a guthrie
One single gene for an enzyme involved in lipid digestion
Too many fatty compounds accumlate in the brain tissue . Can lay dormant for up to 7 months. Starts with muscle twitches, seizures, vision loss, hearing loss, fatal by the age of 4