Pelletier TBL Flashcards

(39 cards)

1
Q

Collective incidence of IEM?

A

1 in 1500

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2
Q

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

A

Early diagnosis

Early intervention

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3
Q

What are the general early symptoms of infants with IEM?

A

Lethargic
Decreased feeding
Vomiting
Tachypnea

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4
Q

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

A
Stupor or coma
Abnormal tone (hyper/hypo)
Posture
Movements
Sleep apnea
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5
Q

What blood levels are suggestive of an IEM?

A

Elevated: Ammonia
Hypoglycemia
Metabolic acidosis

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6
Q

Clinical sensitivity:

A

Ability of a test to accurately detect those with disease

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7
Q

Clinical specificity:

A

Ability of a test to accurately identify those without disease

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8
Q

Positive predictive value:

A

Proportion of those with a positive test who are diseased

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9
Q

Negative predictive value:

A

Proportion of those with a negative test who are disease free

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10
Q

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

A

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

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11
Q

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

A

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

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12
Q

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

A

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

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13
Q

Phenylketonuria defect:

A

Phenylalanine hydroxylase or biopterin metabolic defect

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14
Q

Maple Syrup Urine Disease defect:

A

Branched chained alpha-keto acid dehydrogenase

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15
Q

Galactosemia defect:

A

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

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16
Q

Von Gierke’s Glycogen storage defect Type 1:

A

Glucose-6-Phosphate

17
Q

Medium-Chain Acyl-CoA Dehydrogenase defect:

A

Medium-chain acyl-CoA dehydrogenase

18
Q

Gaucher’s defect:

A

Beta-glucocerebrosidase

19
Q

Fabrys defect:

A

Alpha-galactosidase A

20
Q

Hurler’s defect:

A

Alpha-L-iduronidase

21
Q

Methylmalonicaciduria defect:

A

Methylmalonyl-CoA mutase In Cobalamin metabolism

22
Q

Propionic aciduria defect:

A

Propionyl-CoA carboxylase

23
Q

Zellweger syndrome defect:

A

Peroxisome membrane protein

24
Q

Ornithine transcarbamylase deficiency:

A

Ornithine transcarbamylase

25
Phenylketonuria treatment:
Diet low in Phenylalanine Hydroxylase
26
Maple Syrup Urine treatment:
No BCAAs
27
Galactosemia treatment:
Lactose-free diet
28
Von Gierke's treatment:
Eat starches, eat often over night feeding
29
Medium chain acyl-CoA treatment:
Avoid fasting and hypoglycemia
30
Pyruvate dehydrogenase treatment:
Correct acidosis; high fat; low carbs
31
Gaucher's treatment:
Enzyme therapy, bone marrow transplant
32
Fabry's treatment:
Enzyme replacement
33
Hurler's treatment:
Bone marrow
34
Methylmalonicaciduria treatment:
NaHCO3, carnitine, B12, low protein, liver transplant
35
Propionic aciduria treatment:
Dialysis, NaHCO3, sodium benzoate, carnitine, decrease protein, liver transplant
36
Zellweger treatment:
None
37
Ornithine transcarbamylase treatment:
Sodium benzoate, arginine, decreased protein, essential AA, dialysis in acute stage
38
X-linked IEMs?
Pyruvate dehydrogenase deficiency Fabry's Ornithine transcarbamylase deficiency
39
Pyruvate dehydrogenase defect:
E1 subunit