Metabolic Flashcards
1
Q
- Abnormal urine screening tests categorized as an overflow disorder include all of the following except:
A. Alkaptonuria
B. Galactosemia
C. Melanuria
D. Cystinuria
A
C. Melanuria
2
Q
- All states require newborn screening for PKU for early:
A. Modifications of the diet
B. Administration of antibiotics
C. Detection of diabetes
D. Initiation of gene therapy
A
A. Modifications of the diet
3
Q
- All of the following disorders can be detected by newborn screening except:
A. Tyrosyluria
B. MSUD
C. Melanuria
D. Galactosemia
A
C. Melanuria
4
Q
- The best specimen for early newborn screening is a:
A. Timed urine specimen
B. Blood specimen
C. First morning urine specimen
D. Fecal specimen
A
B. Blood specimen
5
Q
- Which of the following disorders is not associated with the phenylalanine-tyrosine pathway?
A. MSUD
B. Alkaptonuria
C. Albinism
D. Tyrosinemia
A
A. MSUD
6
Q
- The least serious form of tyrosylemia is:
A. Immature liver function
В. Type 1
C. Type 2
D. Type 3
A
A. Immature liver function
7
Q
- An overflow disorder of the phenylalanine-tyrosine pathway that would produce a positive reaction with the reagent strip test for ketones is:
A. Alkaptonuria
B. Melanuria
C. MSUD
D. Tyrosyluria
A
C. MSUD
8
Q
- An overflow disorder that could produce a false postive reaction with clinitest procedure
A. Cystinuria
B. Alkaptonuria
C. Indicanuria
D. Porphyrinuria
A
B. Alkaptonuria
9
Q
- 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
A
D. Both A. Alkaptonuria and C. Melanuria
10
Q
- Ketonuria in a newborn is an indication of:
A. MSUD
B. Isovaleric acidemia
C. Methylmalonic acidemia
D. All of the above
A
D. All of the above
11
Q
- Urine from a newborn with MSUD will have a significant:
A. Pale color
B. Yellow precipitate
C. Milky appearance
D. Sweet odor
A
D. Sweet odor
12
Q
- Hartnup disease is a disorder associated with the metabolism of:
A. Organic acids
B. Tryptophan
C. Cystine
D. Phenylalanine
A
B. Tryptophan
13
Q
- 5-HIAA is a degradation product of:
A. Heme
B. Indole
C. Serotonin
D. Melanin
A
C. Serotonin
14
Q
- Elevated urinary levels of 5-HIAA are associated with:
A. Carcinoid tumors
B. Hartnup disease
C. Cystinuria
D. Platelet disorders
A
A. Carcinoid tumors
15
Q
- False-positive levels of 5-HIAA can be caused by a diet high in:
A. Meat
B. Carbohydrates
C. Starch
D. Bananas
A
D. Bananas
16
Q
- Blue diaper syndrome is associated with:
A. Lesch-Nyhan syndrome
B. Phenylketonuria
C. Cystinuria
D. Hartnup disease
A
D. Hartnup disease
17
Q
- Homocystinuria is caused by failure to metabolize:
A. Lysine
B. Methionine
C. Arginine
D. Cystine
A
B. Methionine
18
Q
- The Ehrlich reaction will detect only the presence of:
A. Uroporphyrin
B. Porphobilinogen
C. Coproporphyrin
D. Protoporphyrin
A
B. Porphobilinogen
19
Q
- Acetyl acetone is added to the urine before performing the Erlich test when checking for
A. Aminolevulinic acid
B. Porphobilinogen
C. Uroporphyrin
D. Coproporphyrin
A
B. Porphobilinogen
20
Q
- The classic urine color associated with porphyria is:
A. Dark yellow
B. Indigo blue
C. Pink
D. Port wine
A
D. Port wine
21
Q
- Which of the following specimens can be used for porphyrin testing?
A. Urine
B. Blood
C. Feces
D. All of the above
A
D. All of the above
22
Q
- The two stages of heme formation affected by lead poisoning are:
A. Porphobilinogen and uroporphyrin
B. Aminolevulinic acid and porphobilingen
C. Coproporphyrin and protoporphyrin
D. Aminolevulinic acid and protoporphyrin
A
D. Aminolevulinic acid and protoporphyrin
23
Q
- Huer Huntering anlip mdomes are hereditary
A. Porphyrins
B. Purines
C. Mucopolysaccharides
D. Tryptophan
A
C. Mucopolysaccharides
24
Q
- Many uric acid crystals in a pediatric urine specimen may indicate:
A. Hurler syndrome
B. Lesch-Nyhan disease
C. Melituria
D. Sanfilippo syndrome
A
B. Lesch-Nyhan disease
25
Q
- Deficiency of the GALT enzyme will produce a:
A. Positive Clinitest
B. Glycosuria
C. Galactosemia
D. Both A and C
A
D. Both A. Positive Clinitest and C. Galactosemia