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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
A. Modifications of 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
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 В. Туре 1 С. Туре 2 D. Турe 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 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 В. Tryptophan C. Cystine D. Phenylalanine
В. 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
The classic urine color associated with porphyria is: A. Dark yellow B. Indigo blue C. Pink D. Port wine
D. Port wine
Which of the following specimens can be used for porphyrin testing? A. Urine B. Blood С. Feces D. All of the above
D. All of the above heme
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
27.D,F,A,E,C,B
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