Topics in Genetic Counseling - PKU Educational Activity

Quiz
•
Biology
•
Professional Development
•
Hard
Brandon Celaya
Used 11+ times
FREE Resource
9 questions
Show all answers
1.
MATCH QUESTION
45 sec • 2 pts
Match the following basic facts about PKU from the presentation.
incidence in US Caucasian population
1:10,000
type of inheritance
Missense
reduces Phe levels in some patients
Palynziq
most PAH mutations are this type
Kuvan
enzyme therapy derivative
Autosomal recessive
2.
FILL IN THE BLANK QUESTION
1 min • 1 pt
PKU testing is in the newborn screen in ? states
3.
MULTIPLE CHOICE QUESTION
20 sec • 1 pt
Which of the following is NOT a common symptom of patients with PKU?
Intellectual disability
Musty body odor
Posture/gait abnormalities
Eczema/light skin pigmentation
Skeletal dysplasia
Answer explanation
Although osteopenia (failure to make new bone after absorption of old bone) is observed in PKU, skeletal dysplasia is not.
4.
MULTIPLE CHOICE QUESTION
20 sec • 1 pt
You have a confirmed positive result from an NBS for a PKU patient. The patient is a compound heterozygote (R408W // Y414C). What resource could you use to determine if Kuvan will work?
New England Consortium
National PKU Alliance
BIOPKU
PKU GOLIKE
GeneReviews
5.
MULTIPLE CHOICE QUESTION
30 sec • 1 pt
Kuvan lowers the Phe levels by how much?
80-90%
3-5%
50-60%
20-30%
6.
MULTIPLE CHOICE QUESTION
30 sec • 1 pt
A family returns with a 3 day old baby boy after NBS came back positive for PKU. Neither parent has PKU. What do you counsel on first?
Most NBS results are false positives so the overall risk is very low.
Without a strong family history, the baby's risk is low but not possible to predict exactly.
Based on the family history, there is at most a 33% recurrence rate for future pregnancies.
After starting a low Phe diet, confirmatory biochemical/genetic testing is indicated.
Answer explanation
Despite high sensitivity/specificity, FP's on NBS do happen. Autosomal conditions like PKU have a 25% recurrence rate when both parents are carriers. Starting a low Phe diet while awaiting confirmation can get the baby started off on the right foot.
7.
MULTIPLE CHOICE QUESTION
20 sec • 1 pt
At which Phe blood level would a diagnosis of moderate PKU be made?
Answer explanation
The moderate form of PKU shows a consistent [Phe] serum level of 1200-900 micromolar. Classic PKU is above 1200 micromolar.
8.
MULTIPLE CHOICE QUESTION
30 sec • 1 pt
In a patient with classic PKU that is not adhering to any diet, which amino acid would you expect to see elevated levels of?
Answer explanation
Tyrosine is the next step in the breakdown of phenylalanine and is important for making neurotransmitters in the body.
9.
HOTSPOT QUESTION
20 sec • 2 pts
Select the 2 snacks in your pack that you would avoid putting in the lunch bag of a child with PKU?
Answer explanation
The Snickers bar and the Twizzlers both have higher levels of protein than the other snacks.
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