Metabolic diseases

Question 1

1. Many metabolic byproducts from inborn errors appear
   first in:
   a. Blood
   b. Urine
   c. Spinal fluid
   d. Mucus

Answer 1

a. Blood

Question 2

2. The common method for analysis of blood samples from
   newborns is:
   a. HPLC
   b. Gas chromatography
   c. Tandem mass spectrometry
   d. Nepholmetry

Answer 2

c. Tandem mass spectrometry

Question 3

3. Hartnup syndrome is due to the lack of absorption of
   which amino acid?
   a. Arginine
   b. Ornithine
   c. Cysteine
   d. Tryptophan

Answer 3

d. Tryptophan

Question 4

4. Albinism results from a deficiency of producing which
   substance?
   a. Melanin
   b. Cysteine
   c. Tyrosine
   d. Purine

Answer 4

d. Purine

Question 5

5. Porphyrias result when there is a breakdown in the
   synthesis of:
   a. Bilirubin
   b. Heme
   c. Proteins
   d. Amino acids

Answer 5

b. Heme

Question 6

6. Cystinuria and cystinosis are conditions that result from
   the disturbance of amino acid:
   a. Transport
   b. Absorption
   c. Metabolism
   d. Excretion

Answer 6

a. Transport

Question 7

7. The metabolic condition that results in a mediumchain-acyl-CoA dehydrogenase (MCAD) enzyme
   deficiency is found in which group?
   a. Aminoaciduria
   b. Porphyria
   c. Fatty acid oxidation disorder
   d. Purine disorder

Answer 7

c. Fatty acid oxidation disorder

Question 8

8. Which of the following aminoacidurias is most common
   and results in urine that has a “mousy” odor?
   a. Indicanuria
   b. Melaninuria
   c. Phenylketonuria
   d. Fanconi disease

Answer 8

c. Phenylketonuria

Question 9

9. Which of the following diseases results in the production
   and excretion of large amounts of homogentisic
   acid?
   a. Melanuria
   b. Tyrosyluria
   c. Alkaptonuria
   d. Maple syrup urine disease

Answer 9

c. Alkaptonuria

Question 10

1 0. A carbohydrate metabolic disorder found in
newborns following introduction of milk in the diet
is known as:
a. Diabetes insipidus
b. Maple syrup urine disease
c. Galactosemia
d. Fructosuria

Answer 10

c. Galactosemia

Question 11

11. In which of the following disorders can patients have
    urine that has a sweet odor?
    a. Fanconi disease
    b. Maple syrup urine
    c. Phenylketonuria
    d. Tyrosinuria

Answer 11

b. Maple syrup urine

Question 12

12. In which of the following disorders can patients have
    urine that darkens upon standing? (choose all that
    apply)
    a. Alkaptonuria
    b. Maple syrup urine
    c. Melaninuria
    d. Porphyria

Answer 12

a. Alkaptonuria
c. Melaninuria

Question 13

1 3. In which of the following disorders can infants have
urine that contains uric acid crystals, which appears as
orange sand in their diapers?
a. Fanconi disease
b. Lesch-Nyhan disease
c. Maple syrup urine
d. Phenylketonuria

Answer 13

b. Lesch-Nyhan disease

Question 14

1 4. A patient whose urine is port-wine in color may have:
a. Fanconi disease
b. Hartnup disease
c. Lesch-Nyhan disease
d. Porphyria

Answer 14

d. Porphyria

Question 15

1 5. In which of the following disorders can infants have
urine that becomes blue upon exposure to air?
a. Fanconi disease
b. Hartnup disease
c. Lesch-Nyhan disease
d. Porphyria

Answer 15

b. Hartnup disease

Question 16

16. Oculocutaneous albinism type 1 is caused by a defect in:
    a. P protein
    b. SLC45A2 protein
    c. TYRP 1 protein
    d. Tyrosinase

Answer 16

d. Tyrosinase