9 URINE SCREENING FOR METABOLIC DISORDERS Flashcards
Abnormal urine screening tests categorized as an overflow disorder include all of the following except:
A. Alkaptonuria
B. Galactosemia
C. Melanuria
D. Cystinuria
C. Melanuria
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. Modifications of the diet
All of the following disorders can be detected by newborn
screening except:
A. Tyrosyluria
B. MSUD
C. Melanuria
D. Galactosemia
C. Melanuria
The best specimen for early newborn screening is a:
A. Timed urine specimen
B. Blood specimen
C. First morning urine specimen
D. Fecal specimen
B. Blood specimen
Which of the following disorders is not associated with
the phenylalanine–tyrosine pathway?
A. MSUD
B. Alkaptonuria
C. Albinism
D. Tyrosinemia
A. MSUD
The least serious form of tyrosylemia is:
A. Immature liver function
B. Type 1
C. Type 2
D. Type 3
A. Immature liver function
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
C. MSUD
An overflow disorder that could produce a false-positive reaction with the Clinitest procedure is:
A. Cystinuria
B. Alkaptonuria
C. Indicanuria
D. Porphyrinuria
B. Alkaptonuria
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
D. Both A and C
Ketonuria in a newborn is an indication of:
A. MSUD
B. Isovaleric acidemia
C. Methylmalonic acidemia
D. All of the above
D. All of the above
Urine from a newborn with MSUD will have a
significant:
A. Pale color
B. Yellow precipitate
C. Milky appearance
D. Sweet odor
D. Sweet odor
Hartnup disease is a disorder associated with the metabolism of:
A. Organic acids
B. Tryptophan
C. Cystine
D. Phenylalanine
B. Tryptophan
5-HIAA is a degradation product of:
A. Heme
B. Indole
C. Serotonin
D. Melanin
C. Serotonin
Elevated urinary levels of 5-HIAA are associated with:
A. Carcinoid tumors
B. Hartnup disease
C. Cystinuria
D. Platelet disorders
A. Carcinoid tumors
False-positive levels of 5-HIAA can be caused by a diet high in:
A. Meat
B. Carbohydrates
C. Starch
D. Bananas
D. Bananas
Indicate whether the following are associated with:
(A) Cystinuria
(B) Cystinosis
IEM
(B) Cystinosis
Indicate whether the following are associated with:
(A) Cystinuria
(B) Cystinosis
Inherited disorder of tubular reabsorption
(A) Cystinuria
Indicate whether the following are associated with:
(A) Cystinuria
(B) Cystinosis
Fanconi syndrome
(B) Cystinosis
Indicate whether the following are associated with:
(A) Cystinuria
(B) Cystinosis
Cystine deposits in the cornea
(B) Cystinosis
Indicate whether the following are associated with:
(A) Cystinuria
(B) Cystinosis
Early renal calculi formation
(A) Cystinuria
Blue diaper syndrome is associated with:
A. Lesch-Nyhan syndrome
B. Phenylketonuria
C. Cystinuria
D. Hartnup disease
D. Hartnup disease
Homocystinuria is caused by failure to metabolize:
A. Lysine
B. Methionine
C. Arginine
D. Cystine
B. Methionine
The Ehrlich reaction will detect only the presence of:
A. Uroporphyrin
B. Porphobilinogen
C. Coproporphyrin
D. Protoporphyrin
B. Porphobilinogen
Acetyl acetone is added to the urine before performing the Ehrlich test when checking for:
A. Aminolevulinic acid
B. Porphobilinogen
C. Uroporphyrin
D. Coproporphyrin
B. Porphobilinogen
