Metabolic disorders

Question 1

All of the following disorders can be detected by newborn
screening except:
A. Tyrosyluria
B. MSUD
C. Melanuria
D. Galactosemia

Answer 1

C. Melanuria

Question 2

The best specimen for early newborn screening is a:
A. Timed urine specimen
B. Blood specimen
C. First morning urine specimen
D. Fecal specimen

Answer 2

B. Blood specimen

Question 3

Abnormal urine screening tests categorized as an overflow
disorder include all of the following except:
A. Alkaptonuria
B. Galactosemia
C. Melanuria
D. Cystinuria

Answer 3

C. Melanuria

Question 4

Which of the following disorders is not associated with the
phenylalanine-tyrosine pathway?
A. MSUD
B. Alkaptonuria
C. Albinism
D. Tyrosinemia

Answer 4

A. MSUD

Question 5

The least serious form of tyrosylemia is:
A. Immature liver function
B. Type 1
C. Type 2
D. Type 3

Answer 5

A. Immature liver function

Question 6

An overflow disorder of the phenylalanine-tyrosine path-
way that would produce a positive reaction with the reagent

strip test for ketones is:
A. Alkaptonuria
B. Melanuria
C. MSUD
D. Tyrosyluria

Answer 6

C. MSUD

Question 7

An overflow disorder that could produce a false-positive
reaction with Clinitest procedure is:
A. Cystinuria
B. Alkaptonuria
C. Indicanuria
D. Porphyrinuria

Answer 7

B. Alkaptonuria

Question 8

A urine that turns black after sitting by the sink for
several hours could be indicative of:
A. Alkaptonuria
B. MSUD
C. Melanuria
D. Both A and C

Answer 8

D. Both A and C

Question 9

Ketonuria in a newborn is an indication of:
A. MSUD
B. Isovaleric acidemia
C. Methylmalonic acidemia
D. All of the above

Answer 9

D. All of the above

Question 10

Urine from a newborn with MSUD will have a significant:
A. Pale color
B. Yellow precipitate
C. Milky appearance
D. Sweet odor

Answer 10

D. Sweet odor

Question 11

Hartnup disease is a disorder associated with the metab-
olism of:

A. Organic acids
B. Tryptophan
C. Cystine
D. Phenylalanine

Answer 11

B. Tryptophan

Question 12

5-HIAA is a degradation product of:
A. Heme
B. Indole
C. Serotonin
D. Melanin

Answer 12

C. Serotonin

Question 13

Elevated urinary levels of 5-HIAA are associated with:
A. Carcinoid tumors
B. Hartnup disease
C. Cystinuria
D. Platelet disorders

Answer 13

A. Carcinoid tumors

Question 14

False-positive levels of 5-HIAA can be caused by a diet
high in:
A. Meat
B. Carbohydrates
C. Starch
D. Bananas

Answer 14

D. Bananas

Question 15

Place the appropriate letter in front of the following
statements.
A. Cystinuria
B. Cystinosis

____ IEM
____ Inherited disorder of tubular reabsorption
____ Fanconi syndrome
____ Cystine deposits in the cornea
____ Early renal calculi formation

Answer 15

B
A
B
B
A

Question 16

Blue diaper syndrome is associated with:
A. Lesch-Nyhan syndrome
B. Phenylketonuria
C. Cystinuria
D. Hartnup disease

Answer 16

D. Hartnup disease

Question 17

Homocystinuria is caused by failure to metabolize:
A. Lysine
B. Methionine
C. Arginine
D. Cystine

Answer 17

B. Methionine

Question 18

The Ehrlich reaction will only detect the presence of:
A. Uroporphyrin
B. Porphobilinogen
C. Coproporphyrin
D. Protoporphyrin

Answer 18

B. Porphobilinogen

Question 19

Acetyl acetone is added to the urine before performing the
Ehrlich test when checking for:
A. Aminolevulinic acid
B. Porphobilinogen
C. Uroporphyrin
D. Coproporphyrin

Answer 19

B. Porphobilinogen

Question 20

Which of the following specimens can be used for porphyrin testing?
A. Urine
B. Blood
C. Feces
D. All of the above

Answer 20

D. All of the above

Question 21

The two stages of heme formation affected by lead poisoning are:
A. Porphobilinogen and uroporphyrin
B. Aminolevulinic acid and porphobilinogen
C. Coproporphyrin and protoporphyrin
D. Aminolevulinic acid and protoporphyrin

Answer 21

D. Aminolevulinic acid and protoporphyrin

Question 22

Hurler, Hunter, and Sanfilippo syndromes are hereditary disorders affecting metabolism of:
A. Porphyrins
B. Purines
C. Mucopolysaccharides
D. Tryptophan

Answer 22

C. Mucopolysaccharides

Question 23

Many uric acid crystals in a pediatric urine specimen may indicate:
A. Hurler syndrome
B. Lesch-Nyhan disease
C. Melituria
D. Sanfilippo syndrome

Answer 23

B. Lesch-Nyhan disease

Question 24

Deficiency of the GALT enzyme will produce a:
A. Positive Clinitest
B. Glycosuria
C. Galactosemia
D. Both A and C

Answer 24

D. Both A and C

Question 25

Match the metabolic urine disorders with their classic urine abnormalities. ____ PKU ____ Indicanuria ____ Cystinuria ____ Alkaptonuria ____ Lesch-Nyhan disease ____ Isovaleric acidemia A. Sulfur odor B. Sweaty feet odor C. Orange sand in diaper D. Mousy odor E. Black color F. Blue color

Answer 25

D F A E C B

Question 25

Crystals in Homogentisic acid

Answer 25

Cystine

Question 27

result from errors in the metabolic pathway converting isoleucine, valine, threonine, and methionine to succinyl coenzyme A

Answer 27

Organic acidemias (Propionic and Methylmalonic)

Question 28

accumulation of isovalerylglycine

Answer 28

Isovaleric acedemia

Question 29

Blue diaper syndrome

Answer 29

Hartnup’s disease

Question 30

Rare inherited disorder increased amount of tryptophan converted to indole

Answer 30

Hartnup disease

Question 31

defect in renal tubular transport of amino acid

Answer 31

Cystinuria

Question 32

The only amino acid found during analysis of calculi from patients

Answer 32

Cystine

Question 33

In cyanide nitroprusside test, what could also give positive results aside from cystine?

Answer 33

Ketone and homocystine

Question 34

Polyuri, generalized aminoaciduria, positive clintest result is indicative of

Answer 34

Infantile nephropathic cystinosis

Question 35

Type of cystinosis that is relatively benign but may cause some ocular disorders

Answer 35

Nonnephropathic cystinosis

Question 36

Porphyrin compounds not found in urine

Answer 36

Protophorphyrin

Question 37

Lead poisoning, excessive alcohol intake, iron deficiency

Answer 37

Porphyria