Metabolic disorders Flashcards
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
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
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 path-
way 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 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 metab-
olism 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
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
D. Hartnup disease
Homocystinuria is caused by failure to metabolize:
A. Lysine
B. Methionine
C. Arginine
D. Cystine
B. Methionine
The Ehrlich reaction will only detect 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
Which of the following specimens can be used for porphyrin testing?
A. Urine
B. Blood
C. Feces
D. All of the above
D. 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
D. Aminolevulinic acid and protoporphyrin
Hurler, Hunter, and Sanfilippo syndromes are hereditary disorders affecting metabolism of:
A. Porphyrins
B. Purines
C. Mucopolysaccharides
D. Tryptophan
C. Mucopolysaccharides
Many uric acid crystals in a pediatric urine specimen may indicate:
A. Hurler syndrome
B. Lesch-Nyhan disease
C. Melituria
D. Sanfilippo syndrome
B. Lesch-Nyhan disease
Deficiency of the GALT enzyme will produce a:
A. Positive Clinitest
B. Glycosuria
C. Galactosemia
D. Both A and C
D. Both A and C
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
D
F
A
E
C
B
Crystals in Homogentisic acid
Cystine
result from errors in the metabolic pathway converting isoleucine, valine, threonine, and methionine to succinyl coenzyme A
Organic acidemias (Propionic and Methylmalonic)
accumulation of isovalerylglycine
Isovaleric acedemia
Blue diaper syndrome
Hartnup’s disease
Rare inherited disorder increased amount of tryptophan converted to indole
Hartnup disease
defect in renal tubular transport of amino acid
Cystinuria
The only amino acid found during analysis of calculi from patients
Cystine
In cyanide nitroprusside test, what could also give positive results aside from cystine?
Ketone and homocystine
Polyuri, generalized aminoaciduria, positive clintest result is indicative of
Infantile nephropathic cystinosis
Type of cystinosis that is relatively benign but may cause some ocular disorders
Nonnephropathic cystinosis
Porphyrin compounds not found in urine
Protophorphyrin
Lead poisoning, excessive alcohol intake, iron deficiency
Porphyria
