Cm chapter 91. All states require newborn screening for PKU for early:A. Modifications of dietB. Administration of antibiotics

C. Detection of diabetesD. Initiation of gene therapy2. All of the following disorders can be detected by

newborn screening except:A. TyrosyluriaB. MSUD

C. Melanuria

D. Galactosemia3. The best specimen for early newborn screening is a:A. Timed urine specimen

B. Blood specimen

C. First morining urine specimenD. Fecal specimen4. Abnormal urine screening tests categorized as an

overflow disorder include all of the following except:A. AlkaptonuriaB. Galactosemia

C. Melanuria

D. Cystinuria5. Which of the following disorders is not associated

with the phenylalanine-tyrosine pathway?A. MSUD

B. Alkaptonuria

C. Albinism

D. Tyrosinemia6. Urine screening tests for PKU utilize:A. Microbial inhibitionB. Nitroso-napthol

C. DinitrophenylhydrazineD. Ferric chloride7. The least serious form of tyrosylemia is:A. Immature liver function

B. Type 1

C. Type 2

D. Type 38. An overflow disorder of the phenylalanine-tyrosine

pathway that could produce a false-positive reaction

with the reagent strip test for ketones is:A. AlkaptonuriaB. Melanuria

C. MSUD

D. Tyrosyluria9. An overflow disorder that could produce a falsepositive

reaction with clinitest is:A. Cystinuria

B. Alkaptonuria

C. IndicanuriaD. Porphyrinuria10. A urine that turns black after sitting by the sink for

several hours could be indicative of:A. AlkaptonuriaB. MSUD

C. Melanuria

D. Both A and C11. Ketonuria in a newborn is an indication of:A. MSUD

B. Isovaleric acidemia

C. Methylmalonic academia D. All of the above12. Urine from a newborn with MSUD will have a

significant:A. Pale color

B. Yellow precipitate

C. Milky appearanceD. Sweet odor13. A substance that reacts with p-nitroaniline is:A. Isovaleric acidB. Propionic acid

C. Methylmalonic acidD. Indican14. Which of the following has a significant odor?A. Isovaleric academia B. Propionic acidemia

C. Methylmalonic academia D. Indicanuria15. Hartnup disease is a disorder associated with the

metabolism of:A. Organic acids B. Tryptophan

C. Cystine

D. Phenylalanine16. 5-HIAA is a degradation product of:A. Heme

B. Indole

C. Serotonin

D. Melanin17. Elevated urinary levels of 5-HIAA are associated with:A. Carcinoid tumors

B. Hartnup disease

C. Cystinuria

D. Platelet disorders18. False-positive levels of 5-HIAA can be caused by

a diet high in:A. Meat

B. Carbohydrates

C. Starch

D. Bananas19. Place the appropriate letter in front of the following

statements.

A. Cystinuria

B. Cystinosis

____IEM

____Inherited disorder of renal tubules

____Fanconi syndrome

____Cystine deposits in the cornea

____Early renal calculi formation20. Urine from patients with cystine disorders will

react with:A. DinitrophenylhydrazineB. Sodium cyanide

C. Ehrlich reagentD. 1-Nitroso-napthol21. Blue diaper syndrome is associated with:A. Lesch-Nyhan syndromeB. Phenylketonuria

C. Cystinuria

D. Hartnup disease22. Homocystinuria is caused by failure to metabolize:A. Lysine

B. Methionine

C. Arginine

D. Cystine23. Early detection is most valuable for correction of:A. HomocystinuriaB. Cystinuria

C. IndicanuriaD. Porphyrinuria24. The Ehrlich reaction will only detect the presence of:A. Aminolevulinic acidB. Porphobilinogen

C. CoproporphyrinD. Protoporphyrin25. Acetylacetone is added to the urine prior to performing the Ehrlich test when checking for:A. Aminolevulinic acidB. Porphobilinogen

C. UroporphyrinD. Coproporphyrin26. The classic urine color associated with porphyria is:A. Dark yellowB. Indigo blue

C. Pink

D. Port wine27. Which of the following specimens can be used for

porphyrin testing?A. Urine

B. Blood

C. Feces

D. All of the above28. 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

29. Hurler, Hunter, and Sanfilippo syndromes are hereditary disorders affecting metabolism of:A. Porphyrins

B. Purines

C. Mucopolysaccharides

D. Tryptophan30. Many uric acid crystals in a pediatric urine specimen

may indicate:A. Hurler syndrome

B. Lesch-Nyhan disease

C. Melituria

D. Sanfilippo syndrome31. Deficiency of the GALT enzyme will produce a:A. Positive Clinitest

B. Glycosuria

C. Galactosemia

D. Both A and C32. Match the metabolic urine disorders with their classic

urine abonormalities.____PKU

A. Sulfur odor

____Indicanuria B. Sweaty feet odor

____Cystinuria C. Orange sand in diaper

____Homogentisic acid D. Mousy odor

____Lesch-Nyhan disease E. Black color

F. Blue color