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PKU
PKU (phenylketonuria) is a genetic disorder that is
autosomal recessive. People with PKU can’t get rid a
phenylalanine, an amino acid. When this builds up in the
body, it will hurt the person. For example, it can lead to
intellectual disabilities and seizures. It used to eventually
kill the person, but now people with PKU can survive with
treatment.
About 1 in 15,000 people in the United States have PKU. It
is treated by removing foods with Phenylalanine from their
diet. You may have seen the following warning on gum:
“Warning Phenylketonuriacs, contains phenylalanine.” This
is to help people with PKU avoid the gum!
Huntington’s Disease
Huntington’s is a genetic disorder that is autosomal
dominant. About 1 in 15,000 people have it. Most people
with the disorder don’t have symptoms until they are about
35. The first symptom is mood changes and trouble thinking
clearly. Soon after, people will have trouble walking and
have more psychiatric issues.
People with Huntington’s may eventually have dementia, a
serious loss of thinking ability. Eventually, they will suffer
from pneumonia (lung infection) and serious falls. There is
currently no cure to the disorder, but scientists are working
on one. People can take various medicines to help stop the
symptoms.
1. Mr. Franklin, does anyone in your family have the
disorder?
Answer: Yes. My mother has the disorder.
2. Mrs. Franklin, do either of your parents have the disorder?
Answer: Yes, actually. My father has it. That’s why we
are here. My mother does not, though.
3. Does your father have any siblings, Mrs. Franklin?
Answer: Yes, he has a brother. His brother does not have
the disorder.
4. Mrs. Franklin, do either of your dad’s parents (your
grandparents) have the disorder?
Answer: No, they do not.
5. Do you have any siblings, Mrs. Franklin?
Answer: Yes, I have one sister and one brother.
6. Do any of your siblings have the disorder, Mrs. Franklin?
Answer: No, they do not have it.