Book: Urine Metabolic Disorders Flashcards
All states require newborn screening for PKU for early:
A. Modifications of diet
B. Administration of antibiotics
C. Detection of diabetes
D. Initiation of gene therapy
Modifications of diet
All of the following disorders can be detected by newborn
screening except:
A. Tyrosyluria
B. MSUD
C. Melanuria
D. Galactosemia
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
Blood specimen
Abnormal urine screening tests categorized as an overflow disorder include all of the following except:
A. Alkaptonuria
B. Galactosemia
C. Melanuria
D. Cystinuria
Melanuria
Which of the following disorders is not associated with the phenylalanine-tyrosine pathway?
A. MSUD
B. Alkaptonuria
C. Albinism
D. Tyrosinemia
MSUD
The least serious form of tyrosylemia is:
A. Immature liver function
B. Type 1
C. Type 2
D. Type 3
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
MSUD
An overflow disorder that could produce a false-positive reaction with Clinitest procedure is:
A. Cystinuria
B. Alkaptonuria
C. Indicanuria
D. Porphyrinuria
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
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
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
Sweet odor
Hartnup disease is a disorder associated with the metabolism of:
A. Organic acids
B. Tryptophan
C. Cystine
D. Phenylalanine
Tryptophan
5-HIAA is a degradation product of:
A. Heme
B. Indole
C. Serotonin
D. Melanin
Serotonin
Elevated urinary levels of 5-HIAA are associated with:
A. Carcinoid tumors
B. Hartnup disease
C. Cystinuria
D. Platelet disorders
Carcinoid tumors
False-positive levels of 5-HIAA can be caused by a diet
high in:
A. Meat
B. Carbohydrates
C. Starch
D. Bananas
Bananas
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
B
A
B
B
A
Blue diaper syndrome is associated with:
A. Lesch-Nyhan syndrome
B. Phenylketonuria
C. Cystinuria
D. Hartnup disease
Hartnup disease
Homocystinuria is caused by failure to metabolize:
A. Lysine
B. Methionine
C. Arginine
D. Cystine
Methionine
The Ehrlich reaction will only detect the presence of:
A. Uroporphyrin
B. Porphobilinogen
C. Coproporphyrin
D. Protoporphyrin
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
Porphobilinogen
The classic urine color associated with porphyria is:
A. Dark yellow
B. Indigo blue
C. Pink
D. Port wine
Port wine
Which of the following specimens can be used for
porphyrin testing?
A. Urine
B. Blood
C. Feces
D. All of the above
All of the above
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
Aminolevulinic acid and protoporphyrin
Hurler, Hunter, and Sanfilippo syndromes are hereditary disorders affecting metabolism of:
A. Porphyrins
B. Purines
C. Mucopolysaccharides
D. Tryptophan
Mucopolysaccharides
Many uric acid crystals in a pediatric urine specimen may indicate:
A. Hurler syndrome
B. Lesch-Nyhan disease
C. Melituria
D. Sanfilippo syndrome
Lesch-Nyhan disease
Deficiency of the GALT enzyme will produce a:
A. Positive Clinitest
B. Glycosuria
C. Galactosemia
D. Both A and C
Both A and C
Match the metabolic urine disorders with their classic
urine abnormalities
PKU
Indicanuria
Cystinuria
Alkaptonuria
Lesch-Nyhan disease
Isovaleric acidemia
Mousy odor
Blue color
Sulfur odor
Black color
Orange sand in diaper
Sweaty feet odor
