Pelletier TBL

Question 1

Collective incidence of IEM?

Answer 1

1 in 1500

Question 2

What is the most important factor for patient outcome in individuals with IEM?

Answer 2

Early diagnosis

Early intervention

Question 3

What are the general early symptoms of infants with IEM?

Answer 3

Lethargic
Decreased feeding
Vomiting
Tachypnea

Question 4

What are the general symptoms as the disease progresses in infants?

Answer 4

Stupor or coma
Abnormal tone (hyper/hypo)
Posture
Movements
Sleep apnea

Question 5

What blood levels are suggestive of an IEM?

Answer 5

Elevated: Ammonia
Hypoglycemia
Metabolic acidosis

Question 6

Clinical sensitivity:

Answer 6

Ability of a test to accurately detect those with disease

Question 7

Clinical specificity:

Answer 7

Ability of a test to accurately identify those without disease

Question 8

Positive predictive value:

Answer 8

Proportion of those with a positive test who are diseased

Question 9

Negative predictive value:

Answer 9

Proportion of those with a negative test who are disease free

Question 10

Why is PKU less of a challenge than Maple syrup urine disease to treat?

Answer 10

PKU has only one enzyme so only phenylalanine is avoided and Maple syrup urine disease needs all BCAAs to be avoided valine, leucine, isoleucine

Question 11

How do you treat a prototypical IEM before a definitive diagnosis is made?

Answer 11

Organic acidemia: 1 mg intramuscular vitamin B12
Metabolic acidosis: sodium bicarbonate
Seizure: traditional antiepileptic drugs

Question 12

What populations are at risk for: Maple Syrup Urine Disease, Gaucher’s disease, MCAC deficiency?

Answer 12

Maple syrup: Mennonites
Gaucher’s: Ashkenazi Jews
MCAD: Northwestern European ancestry

Question 13

Phenylketonuria defect:

Answer 13

Phenylalanine hydroxylase or biopterin metabolic defect

Question 14

Maple Syrup Urine Disease defect:

Answer 14

Branched chained alpha-keto acid dehydrogenase

Question 15

Galactosemia defect:

Answer 15

Galactose-1-phophate uridyl-transferase (most common) or Galactokinase or Epimerase

Question 16

Von Gierke’s Glycogen storage defect Type 1:

Answer 16

Glucose-6-Phosphate

Question 17

Medium-Chain Acyl-CoA Dehydrogenase defect:

Answer 17

Medium-chain acyl-CoA dehydrogenase

Question 18

Gaucher’s defect:

Answer 18

Beta-glucocerebrosidase

Question 19

Fabrys defect:

Answer 19

Alpha-galactosidase A

Question 20

Hurler’s defect:

Answer 20

Alpha-L-iduronidase

Question 21

Methylmalonicaciduria defect:

Answer 21

Methylmalonyl-CoA mutase In Cobalamin metabolism

Question 22

Propionic aciduria defect:

Answer 22

Propionyl-CoA carboxylase

Question 23

Zellweger syndrome defect:

Answer 23

Peroxisome membrane protein

Question 24

Ornithine transcarbamylase deficiency:

Answer 24

Ornithine transcarbamylase

Question 25

Phenylketonuria treatment:

Answer 25

Diet low in Phenylalanine Hydroxylase

Question 26

Maple Syrup Urine treatment:

Answer 26

No BCAAs

Question 27

Galactosemia treatment:

Answer 27

Lactose-free diet

Question 28

Von Gierke’s treatment:

Answer 28

Eat starches, eat often over night feeding

Question 29

Medium chain acyl-CoA treatment:

Answer 29

Avoid fasting and hypoglycemia

Question 30

Pyruvate dehydrogenase treatment:

Answer 30

Correct acidosis; high fat; low carbs

Question 31

Gaucher’s treatment:

Answer 31

Enzyme therapy, bone marrow transplant

Question 32

Fabry’s treatment:

Answer 32

Enzyme replacement

Question 33

Hurler’s treatment:

Answer 33

Bone marrow

Question 34

Methylmalonicaciduria treatment:

Answer 34

NaHCO3, carnitine, B12, low protein, liver transplant

Question 35

Propionic aciduria treatment:

Answer 35

Dialysis, NaHCO3, sodium benzoate, carnitine, decrease protein, liver transplant

Question 36

Zellweger treatment:

Answer 36

None

Question 37

Ornithine transcarbamylase treatment:

Answer 37

Sodium benzoate, arginine, decreased protein, essential AA, dialysis in acute stage

Question 38

X-linked IEMs?

Answer 38

Pyruvate dehydrogenase deficiency
Fabry’s
Ornithine transcarbamylase deficiency

Question 39

Pyruvate dehydrogenase defect:

Answer 39

E1 subunit