ABGC Board Exam Prep: Metabolic Genetics UPDATED Study Guide QUESTIONS AND CORRECT ANSWERS

ABGC Board Exam Prep: Metabolic
Genetics UPDATED Study Guide
QUESTIONS AND CORRECT ANSWERS
Question: Individuals with Isovaleric acidemia may smell like which odor?


a) musty rodent
b) sweaty feet
c) unaltered male cate urine
d) fruity - CORRECT ANSWERS Answer:
b) sweaty feet


Question: An individual with PKU may smell like which odor?


a) musty rodent
b) sweaty feet
c) fishy
d) fruity - CORRECT ANSWERS Answer:


a) musty rodent


An individual with trimethylaminuria may smell like which odor?


a) musty rodent
b) sweaty feet
c) fishy
d) fruity - CORRECT ANSWERS Answer:

, c) fishy


Question: A 3 month old presents to his PCP with FTT, hypotonia, alopecia, and
is found to have a fungal infection. What might be able to reverse some of these
features in this child?


a) low-fat diet
b) low-protein diet
c) biotin supplement
d) oral betaine - CORRECT ANSWERS Answer:


c) biotin supplement


Question: In what form is glucose stored in the body, and is it a readily available
energy source? - CORRECT ANSWERS Answer:


glycogen, and yes it is readily available for mobilization


Question: In glycogen storage disorders, the toxic accumulation of glycogen
affects which organ systems the most? - CORRECT ANSWERS
Answer:


muscles and liver


*muscles require a lot of energy to function
*accumulation of glycogen occurs in liver and kidney - patients may need liver
and kidney transplant (especially in one type of GSD..any guesses which one?)