Quiz 1 (CIS)

Question 1

Metabolic syndrome:

• must have one of: ?
• must have two of: ?

Answer 1

-one of: 
diabetes mellitus / 
impaired glucose tolerance / 
impaired fasting glucose / 
insulin resistance

-two of:
High BP
Dyslipidemia (high LDL; low HDL)
Obesity
Microalbuminuria

Question 2

Dyslipidemia, hyperglycemia, and hypertension are ___ risk factors.

Answer 2

Cardiac

Question 3

In metabolic syndrome, ___ is overproduced causing the stimulation of FA synthesis and the inhibition oof Gluconeogenesis.

Answer 3

Insulin

Question 4

A patient with metabolic syndrome will over produce fatty acids which may accumulate in the ___ resulting in ___.

Answer 4

Liver / steatosis (fatty liver)

Question 5

Case:

• 6mo infant
• neurological (social/cognitive) delays
• “musty odor” in urine
• skin hypopigmentation

What is most likely?
A. Hartnup disease
B. Cerebral palsy
C. MSUD
D. PKU
E. Albinism

Answer 5

D. PKU - unable to break down Phe

• A. Hartnup disease - not associated with smelly urine; due to problem absorbing non-polar AA
• B. Cerebral palsy - not associated with skin pigmentation; due to brain damage
• C. MSUD - urine would be “sweet” smelling; due to problem in break down of branched chain AA (Val/Ile/Leu)
• E. Albinism - not associated with smelly urine

Question 6

Newborn screening is performed between___ hours.

Answer 6

24-48

Question 7

Case:

• 1 mo infant
• loss of weight
• yellow discoloration of skin and sclera
• disorder is probably a result of accumulation of galactose-1-Phosphate

Which enzyme is most likely deficient?
A. Galactokinase
B. Dihydopteridine Reductase
C. Galactosylceramidase
D. GALT (Galactose-1-phosphate uridyltransferase transferase)
E. Galacitol

Answer 7

D. GALT - failure to metabolize galactose into glucose causes jaundice (yellow color)

A. Galactokinase - juvenile cataracts not present
B. Dihydopteridine Reductase - decreased levels of dopamine, serotonin, and folate; abnormal movements not present
C. Galactosylceramidase - affects myelin
E. Galacitol - not an enzyme; causes cataracts

Question 8

Kwashiorkor

Answer 8

Malnutrition due to protein deficiency

Question 9

Marasmus

Answer 9

Malnutrition due to protein AND carbohydrates

*key characteristic: no energy because lack of carbs

Question 10

Case:

• fatigue / numb feet / smooth tongue
• blood cells too big / anemia

What is deficient?
A. Vitamin A
B. Vitamin B1
C. Vitamin B12
D. Vitamin C
E. Vitamin K

Answer 10

C. Vitamin B12 - fatigue / swollen tongue / megaloblastic anemia

A. Vitamin A - would lead to eye problems like night blindness
B. Vitamin B1 - Thiamine; Berberi (wet=edema / dry=paralysis)
D. Vitamin C - would lead to Scurvy (yellowish skin, muscle weakness)
E. Vitamin K - heavy bleeding

Question 11

Case:
-numbness / difficulty walking
-vision problems
-past history of Crohn disease
What vitamin might be deficient?
A. B2
B. B3
C. B6
D. D
E. E

Answer 11

E. E - associated with Crohn’s disease

A. B2 - Riboflavin; sensitivity to light; mouth rash
B. B3 - Niacin; can cause pellagra (pigmentation rash to sunlight); mouth rash
C. B6 - Pyridoxine; microcytic anemia; mouth rash
D. D - cognitive impairment in adults; rickets in kids