Metabolics = Organic acidurias (TRANSFERRED) Flashcards
1
Q
Reference: Genetics residents in-training examination - March 2020 (Spring 2020)
Which of the following are common associations with methylmalonic acidemia due to deficiency of methylmalonyl-coenzyme A mutase?
A - Ketoacidosis
B - Optic atrophy
C - Increased methylmalonic acid (urine)
D - Increased propionylcarnitine (plasma)
E - Increased methylmalonic acid precursor amino acids (plasma)
Choices: 1 - A only 2 - A and C only 3 - A, B and C only 4 - A, B, C and D only 5 - All are correct
A
4 - A, B, C and D only
