WorksheetsCM-14
Total questions: 146
Worksheet time: 1hrs 13mins
Name
Class
Date
1.
Increased acid in blood, Increased amino acid in urine
a)
Overflow type of aminoaciduria
b)
Renal type of aminoaciduria
2.
PKU is an example of?
a)
Overflow type of aminoaciduria
b)
Renal type of aminoaciduria
3.
Cystinosis is an example of?
a)
Overflow type of aminoaciduria
b)
Renal type of aminoaciduria
4.
MSUD is an example of?
a)
Overflow type of aminoaciduria
b)
Renal type of aminoaciduria
5.
Cystinuria is an example of?
a)
Overflow type of aminoaciduria
b)
Renal type of aminoaciduria
6.
Fanconi's syndrome is an example of?
a)
Overflow type of aminoaciduria
b)
Renal type of aminoaciduria
7.
Normal amino acid in blood, increased amino acid in urine
a)
Overflow type of aminoaciduria
b)
Renal type of aminoaciduria
8.
Which of the following causes maltese cross formation?
a)
Oval fat bodies
b)
Bilirubin
c)
Fatty casts
d)
Fat droplets
e)
Starch granules
9.
Spheres with dimpled center ("Y" indentation)
a)
Starch granules
b)
Oil droplets
c)
Air bubbles
d)
Pollen grains
e)
Hair and fibers
10.
"Maltese cross" formation on polarizing microscope
a)
Starch granules
b)
Oil droplets
c)
Air bubbles
d)
Pollen grains
e)
Hair and fibers
11.
spheres with cell wall and concentric circles
a)
Starch granules
b)
Oil droplets
c)
Air bubbles
d)
Pollen grains
e)
Hair and fibers
12.
Often mistaken for A. lumbricoides fertilized egg
a)
Starch granules
b)
Oil droplets
c)
Air bubbles
d)
Pollen grains
e)
Hair and fibers
13.
Mistaken for casts
a)
Starch granules
b)
Oil droplets
c)
Air bubbles
d)
Pollen grains
e)
Hair and fibers
14.
In overflow type of aminoaciduria, the level of amino acid in blood is?
a)
Increased
b)
Normal
c)
Decreased
15.
In overflow type of aminoaciduria, the level of amino acid in urine is?
a)
Increased
b)
Normal
c)
Decreased
16.
In renal type of aminoaciduria, the level of amino acid in urine is?
a)
Increased
b)
Normal
c)
Decreased
17.
In renal type of aminoaciduria, the level of amino acid in blood is?
a)
Increased
b)
Normal
c)
Decreased
18.
Which of the following is the most well-known of the aminoacidurias?
a)
Phenylketonuria
b)
Tyrosyluria or Tyrosinemia
c)
Alkaptonuria
d)
Melanuria
19.
Which of the following is negative for the gene that codes for phenylalanine hydrolase?
a)
Phenylketonuria
b)
Tyrosyluria or Tyrosinemia
c)
Alkaptonuria
d)
Melanuria
20.
Which of the following is characterized by an increase in phenylpyruvic acid (a ketone) in urine?
a)
Phenylketonuria
b)
Tyrosyluria or Tyrosinemia
c)
Alkaptonuria
d)
Melanuria
21.
Which of the following is characterized by mousy urine, sweat, and breath odor (due to phenylacetic acid) and may lead to severe mental retardation?
a)
Phenylketonuria
b)
Tyrosyluria or Tyrosinemia
c)
Alkaptonuria
d)
Melanuria
22.
Which of the following is (-) negative for the gene that codes for:
Type 1: Fumarylacetoacetate hydrolase (FAH)
Type 2: Tyrosine aminotransferase
Type 3: p-hydroxyphenylpyruvic acid dioxygenase
and may also be seen in severe liver disease?
a)
Phenylketonuria
b)
Tyrosyluria or Tyrosinemia
c)
Alkaptonuria
d)
Melanuria
23.
Which of the following is characterized by a rancid butter urine odor?
a)
Phenylketonuria
b)
Tyrosyluria or Tyrosinemia
c)
Alkaptonuria
d)
Melanuria
24.
Which of the following is negative for the gene that codes for homogentisic acid oxidase?
a)
Phenylketonuria
b)
Tyrosyluria or Tyrosinemia
c)
Alkaptonuria
d)
Melanuria
25.
Which of the following is characterized by a urine that darkens after being alkaline from standing at room temperature?
a)
Phenylketonuria
b)
Tyrosyluria or Tyrosinemia
c)
Alkaptonuria
d)
Melanuria
26.
Which of the following is characterized by a Brown- or black-stained cloth diapers?
a)
Phenylketonuria
b)
Tyrosyluria or Tyrosinemia
c)
Alkaptonuria
d)
Melanuria
27.
Which of the following is characterized by a Reddish-stained disposable (plastic) diapers?
a)
Phenylketonuria
b)
Tyrosyluria or Tyrosinemia
c)
Alkaptonuria
d)
Melanuria
28.
Homogentisic acid causes black pigmentation in the connective tissues and ears (ochronosis)
Treatment = Vitamin C
a)
Phenylketonuria
b)
Tyrosyluria or Tyrosinemia
c)
Alkaptonuria
d)
Melanuria
29.
Which of the following is caused by melanoma, a tumor involving melanocytes?
a)
Phenylketonuria
b)
Tyrosyluria or Tyrosinemia
c)
Alkaptonuria
d)
Melanuria
30.
Which of the following is characterized by a urine that darkens upon air exposure and involves deficiency in the production of melanin leading to albinism?
a)
Phenylketonuria
b)
Tyrosyluria or Tyrosinemia
c)
Alkaptonuria
d)
Melanuria
31.
FeCl3 tube test = (+) Gray/black ppt
Sodium nitroprusside test = (+) Red
Ehrlich test = (+) Red
a)
Phenylketonuria
b)
Tyrosyluria or Tyrosinemia
c)
Alkaptonuria
d)
Melanuria
32.
Screening Tests FeCl3 tube test = (+) transient blue Clinitest = (+) yellow precipitate
Silver nitrate test = (+) black color
ConfirmatoryTests
Paper/thin-layer chromatography
Capillary electrophoresis
GC-MS
a)
Phenylketonuria
b)
Tyrosyluria or Tyrosinemia
c)
Alkaptonuria
d)
Melanuria
33.
Screening Tests
FeCl3 tube test = (+) transient green
Nitroso-naphthol = (+) orange-red
Confirmatory Tests Chromatography Quantitative serum assay of tyrosine
a)
Phenylketonuria
b)
Tyrosyluria or Tyrosinemia
c)
Alkaptonuria
d)
Melanuria
34.
Screening tests:
FeCl3 tube test = (+) blue-green color
Phenistix strip = (+) gray to gray-green
Guthrie bacterial inhibition test
Confirmatory test: Ion exchange HPLC
a)
Phenylketonuria
b)
Tyrosyluria or Tyrosinemia
c)
Alkaptonuria
d)
Melanuria
35.
Which of the following screening test for melanuria yields a gray or black precipitate positive (+) reaction?
a)
FeCl3 tube test
b)
Sodium nitroprusside test
c)
Ehrlich test
36.
Which of the following screening test for melanuria yields a red positive (+) reaction?
a)
FeCl3 tube test
b)
Sodium nitroprusside test
c)
Ehrlich test
37.
Tumors secrete 5,6-dihydroxyindole, which oxidizes to melanogen then to melanin
a)
Phenylketonuria
b)
Tyrosyluria or Tyrosinemia
c)
Alkaptonuria
d)
Melanuria
38.
Which screening test for tyrosinemia/tyrosyluria yields a transient green positive (+) reaction?
a)
FeCl3 tube test
b)
Nitroso-naphthol
c)
Chromatography
d)
Quantitative seurm assay of tyrosine
39.
Which screening test for tyrosinemia/tyrosyluria yields a orange-red positive (+) reaction?
a)
FeCl3 tube test
b)
Nitroso-naphthol
c)
Chromatography
d)
Quantitative seurm assay of tyrosine
40.
Which of the following are screening tests for tyrosyluria/tyrosinemia?
a)
FeCl3 tube test
b)
Nitroso-naphthol
c)
Chromatography
d)
Quantitative seurm assay of tyrosine
41.
Which of the following are confirmatory tests for tyrosyluria/tyrosinemia?
a)
FeCl3 tube test
b)
Nitroso-naphthol
c)
Chromatography
d)
Quantitative seurm assay of tyrosine
42.
Which screening test for alkaptonuria yields a transient blue positive (+) reaction?
a)
Fecl3 tube test
b)
Clinitest
c)
Silver nitrate test
d)
Paper or thin layer chromatography
e)
Capillary electorphoresis, GC-MS
43.
Which screening test for alkaptonuria yields a yellow precipitate positive (+) reaction?
a)
Fecl3 tube test
b)
Clinitest
c)
Silver nitrate test
d)
Paper or thin layer chromatography
e)
Capillary electorphoresis, GC-MS
44.
Which screening test for alkaptonuria yields a black color positive (+) reaction?
a)
Fecl3 tube test
b)
Clinitest
c)
Silver nitrate test
d)
Paper or thin layer chromatography
e)
Capillary electorphoresis, GC-MS
45.
Which of the following are screening tests for alkaptonuria?
a)
Fecl3 tube test
b)
Clinitest
c)
Silver nitrate test
d)
Paper or thin layer chromatography
e)
Capillary electorphoresis, GC-MS
46.
Which of the following are confirmatory tests for alkaptonuria?
a)
Fecl3 tube test
b)
Clinitest
c)
Silver nitrate test
d)
Paper or thin layer chromatography
e)
Capillary electorphoresis, GC-MS
47.
Which type of tyrosyluria/tyrosinemia is negative for the gene Fumarylacetoacetate hydrolase (FAH)?
a)
Type 1 Tyrosinemia
b)
Type 2 Tyrosinemia
c)
Type 3 Tyrosinemia
48.
Which type of tyrosyluria/tyrosinemia is negative for the gene Tyrosine aminotransferase?
a)
Type 1 Tyrosinemia
b)
Type 2 Tyrosinemia
c)
Type 3 Tyrosinemia
49.
Which type of tyrosyluria/tyrosinemia is negative for the gene p-hydroxyphenylpyruvic acid dioxygenase?
a)
Type 1 Tyrosinemia
b)
Type 2 Tyrosinemia
c)
Type 3 Tyrosinemia
50.
Which of the following are screening tests for Phenylketonuria?
a)
FeCl3 tube test
b)
Phenistix strip
c)
Guthrie bacterial inhibition test
d)
Ion exchange HPLC
51.
Which of the following is a confirmatory test for Phenylketonuria?
a)
FeCl3 tube test
b)
Phenistix strip
c)
Guthrie bacterial inhibition test
d)
Ion exchange HPLC
52.
Which of the following uses B. subtilis and cultures it with B2-thienylalanine (TE)? B2-TE inhibits the growth of B. subtilis. Phenylalanine counteracts the action of ẞ2-ТЕ
a)
FeCl3 tube test
b)
Phenistix strip
c)
Guthrie bacterial inhibition test
d)
Ion exchange HPLC
53.
Which screening test for Phenylketonuria yields a blue-green color when positive (+)?
a)
FeCl3 tube test
b)
Phenistix strip
c)
Guthrie bacterial inhibition test
d)
Ion exchange HPLC
54.
Which screening test for Phenylketonuria yields a gray to gray-green color when positive (+)?
a)
FeCl3 tube test
b)
Phenistix strip
c)
Guthrie bacterial inhibition test
d)
Ion exchange HPLC
55.
Other forms are due to lack of tetrahydrobiopterin
a)
Phenylketonuria
b)
Tyrosyluria or TYrosinemia
c)
Alkaptonuria
d)
Melanuria
56.
What is the most common inborn error of metabolism in the Philippines?
a)
Maple Syrup Urine disease
b)
Organic acidemias
57.
Which of the following branched-chain amino acid disorders is characterized by a (-) Gene that codes for the enzyme complex known as branched-chain a-keto acid dehydrogenase (BCKD)?
a)
Maple Syrup Urine disease
b)
Organic acidemias
58.
Which of the following branched-chain amino acid disorders is characterized by an increase in ketoacids of leucine, isoleucine, and valine?
a)
Maple Syrup Urine disease
b)
Organic acidemias
59.
Which of the following branched-chain amino acid disorders is characterized by a "Caramelized sugar/Maple syrup/Cury" urine odor?
a)
Maple Syrup Urine disease
b)
Organic acidemias
60.
Alloisoleucine of >5 umol/L = sensitive & specific for MSUD
a)
Maple Syrup Urine disease
b)
Organic acidemias
61.
Isovaleric acidemia, propionic acidemia, and methylmalonic acidemia is an example of?
a)
Maple Syrup Urine disease
b)
Organic acidemias
62.
"sweaty feet" urine odor due to isovalerylglycine; (-) isovaleryl CoA
a)
Isovaleric acidemia
b)
Propionic acidemia
c)
Methylmalonic acidemia
63.
detected using p-nitroaniline test = (+) Emerald green color
a)
Isovaleric acidemia
b)
Propionic acidemia
c)
Methylmalonic acidemia
64.
Which of the following tryptophan disorders is characterized by an indigo blue urine color upon air exposure?
a)
Indicanuria
b)
Argentaffinoma
65.
Which of the following tryptophan disorders is seen in: 1. Hartnup disease = blue diaper syndrome
2. Intestinal disorders
a)
Indicanuria
b)
Argentaffinoma
66.
FeCl3 + urine + chloroform yielding a violet positive (+) color is used for screening which of the ff. tryptophan disorder?
a)
Indicanuria
b)
Argentaffinoma
67.
Obemayer's test is a screening test for?
a)
Indicanuria
b)
Argentaffinoma
68.
Tumor involving argentaffin or enterochromaffin cells that produce serotonin ----> metabolized into 5-HIAA
a)
Indicanuria
b)
Argentaffinoma
69.
Screening tests:
FeCl3 tube test = (+) Blue-green
Nitrosonaphthol with nitrous acid = (+) Violet
a)
Indicanuria
b)
Argentaffinoma
70.
When testing for this tryotophan disorder, the patient must not eat or take the following for 3 days: Bananas, pineapples, tomatoes, chocolates, walnuts, plums, kiwi fruit, eggplants, avocados, phenothiazines, and acetanillides
a)
Indicanuria
b)
Argentaffinoma
71.
Obemayer's test
a)
FeCl3 + Urine + Chloroform
b)
FeCl3 tube test
c)
Nitrosonaphthol with nitrous acid
72.
Which of the ff. yields a violet (+) color?
a)
FeCl3 + Urine + Chloroform
b)
FeCl3 tube test
c)
Nitrosonaphthol with nitrous acid
73.
Which of the ff. yields a blue-green (+) color in argentaffinoma?
a)
FeCl3 + Urine + Chloroform
b)
FeCl3 tube test
c)
Nitrosonaphthol with nitrous acid
74.
Which of the ff. is a renal type of aminoaciduria?
a)
Cystinuria
b)
Cystinosis
c)
Homocystinuria
75.
Which of the ff. is cgaracterized by a defective tubular reabsorption of cystine, ornithine, lysine, and arginine?
a)
Cystinuria
b)
Cystinosis
c)
Homocystinuria
76.
test for cystinuria
a)
Brand's modification of Legal's nitroprusside
b)
Ion-exchange chromatography
c)
Molecular genetic testing
77.
test for cystinosis
a)
Brand's modification of Legal's nitroprusside
b)
Ion-exchange chromatography
c)
Molecular genetic testing
78.
Reagent= sodium nitroprusside; (+) Red-purple color
a)
Brand's modification of Legal's nitroprusside
b)
Ion-exchange chromatography
c)
Molecular genetic testing
79.
Inborn error of metabolism ---> Overflow typе
a)
Cystinuria
b)
Cystinosis
c)
Homocystinuria
80.
Cystine deposits in many areas of the body (BM, cornea, lymph nodes & internal organs)
a)
Cystinuria
b)
Cystinosis
c)
Homocystinuria
81.
Types = Nephropathic cystinosis, intermediate cystinosis, and ocular cystinosis
a)
Cystinuria
b)
Cystinosis
c)
Homocystinuria
82.
(-) gene that codes for an enzyme responsible for cystine metabolism
a)
Cystinuria
b)
Cystinosis
c)
Homocystinuria
83.
Defects in the metabolism of methionine (leads to ↑homocysteine)
a)
Cystinuria
b)
Cystinosis
c)
Homocystinuria
84.
(-) gene that codes for the enzyme cystathione ẞ-synthase
a)
Cystinuria
b)
Cystinosis
c)
Homocystinuria
85.
Detected by the Silver-nitroprusside test = (+) Red-purple color
a)
Cystinuria
b)
Cystinosis
c)
Homocystinuria
86.
Disorders of porphyrin metabolism; urine color is red/purple/burgundy-red/purplish red or portwine
a)
Phenylalanine-tyrosine disorders
b)
Branched-chain amino acid disorders
c)
Tryptophan disorders
d)
Cystine disorders
e)
Porphyrin disorders
87.
Colorless in lead poisoning
a)
Phenylalanine-tyrosine disorders
b)
Branched-chain amino acid disorders
c)
Tryptophan disorders
d)
Cystine disorders
e)
Porphyrin disorders
88.
When there is a presence of red-tinged urine, negative for blood reagent strip and diet as well as medications are ruled out, consider it....
a)
Phenylalanine-tyrosine disorders
b)
Branched-chain amino acid disorders
c)
Tryptophan disorders
d)
Cystine disorders
e)
Porphyrin disorders
89.
Porphobilinogen
a)
Colorless, nonfluorescent
b)
Dark red or purple, intensely fluorescent
90.
Protoporphyrinogen
a)
Colorless, nonfluorescent
b)
Dark red or purple, intensely fluorescent
91.
Coproporphyrinogen
a)
Colorless, nonfluorescent
b)
Dark red or purple, intensely fluorescent
92.
Uroporphyrinogen
a)
Colorless, nonfluorescent
b)
Dark red or purple, intensely fluorescent
93.
D-aminolevulinic acid
a)
Colorless, nonfluorescent
b)
Dark red or purple, intensely fluorescent
94.
Uroporphyrin
a)
Colorless, nonfluorescent
b)
Dark red or purple, intensely fluorescent
95.
Coproporphyrin
a)
Colorless, nonfluorescent
b)
Dark red or purple, intensely fluorescent
96.
Protoporphyrin
a)
Colorless, nonfluorescent
b)
Dark red or purple, intensely fluorescent
97.
CDC-recommended test for lead poisoning
a)
Ehrlich's reaction
b)
Fluorescence at 550-600 nm
c)
Free erythrocyte protoporphyrin
98.
Tests for uroporphyrin, coproporphyrin & protoporphyrin (+) Violet/Pink/Red fluorescence
a)
Ehrlich's reaction
b)
Fluorescence at 550-600 nm
c)
Free erythrocyte protoporphyrin
99.
Detects D-ALA, PBG
a)
Ehrlich's reaction
b)
Fluorescence at 550-600 nm
c)
Free erythrocyte protoporphyrin
100.
Select all the possible specimen for screening porphyria
a)
Urine
b)
Stool
c)
Blood
d)
Sweat
e)
Bile
101.
Enzyme defficient: Uroporphyrinogen synthase
a)
Acute intermittent porphyria
b)
Porphyria cutanea tarda
c)
Congenital erythropoietic porphyria
d)
Variegate porphyria
102.
Enzyme defficient: Uroporphyrinogen decarboxylase
a)
Acute intermittent porphyria
b)
Porphyria cutanea tarda
c)
Congenital erythropoietic porphyria
d)
Variegate porphyria
103.
Enzyme defficient: Uroporphyrinogen cosynthase
a)
Acute intermittent porphyria
b)
Porphyria cutanea tarda
c)
Congenital erythropoietic porphyria
d)
Variegate porphyria
104.
Enzyme defficient: Protoporphyrinogen oxidase
a)
Acute intermittent porphyria
b)
Porphyria cutanea tarda
c)
Congenital erythropoietic porphyria
d)
Variegate porphyria
105.
Compound(s): ALA, PBG
a)
Acute intermittent porphyria
b)
Porphyria cutanea tarda
c)
Congenital erythropoietic porphyria
d)
Variegate porphyria
106.
Compound(s): Uroporphyrin only
a)
Acute intermittent porphyria
b)
Porphyria cutanea tarda
c)
Congenital erythropoietic porphyria
d)
Variegate porphyria
107.
Compound(s): Uroporphyrin, coproporphyrin
a)
Acute intermittent porphyria
b)
Porphyria cutanea tarda
c)
Congenital erythropoietic porphyria
d)
Variegate porphyria
108.
Which of the ff. has neurological and psychiatric symptoms?
a)
Acute intermittent porphyria
b)
Porphyria cutanea tarda
c)
Congenital erythropoietic porphyria
d)
Variegate porphyria
109.
Which of the ff. has neurological and photosensitivity symptoms?
a)
Acute intermittent porphyria
b)
Porphyria cutanea tarda
c)
Congenital erythropoietic porphyria
d)
Variegate porphyria
110.
Which of the ff. only has photosensitivity symptoms?
a)
Acute intermittent porphyria
b)
Porphyria cutanea tarda
c)
Congenital erythropoietic porphyria
d)
Variegate porphyria
111.
Compound(s): coproporphyrin only
a)
Acute intermittent porphyria
b)
Porphyria cutanea tarda
c)
Congenital erythropoietic porphyria
d)
Variegate porphyria
112.
Portwine urine color is more prevalent in the...
a)
Erythropoietic protoporphyria
b)
Lead poisoning
113.
Compound(s): Protoporphyrin
a)
Erythropoietic protoporphyria
b)
Lead poisoning
114.
Compound(s): ALA, Protoporphyrin
a)
Erythropoietic protoporphyria
b)
Lead poisoning
115.
Which of the ff. has neurological symptoms?
a)
Erythropoietic protoporphyria
b)
Lead poisoning
116.
Which of the ff. has photosensitivity symptoms?
a)
Erythropoietic protoporphyria
b)
Lead poisoning
117.
Enzyme deficient: Ferrocheletase
a)
Erythropoietic protoporphyria
b)
Lead poisoning
118.
Hurler syndrome
a)
Mucopolysaccharide disorder
b)
Purine disorder
c)
Carbohydrate disorder
119.
Sanfilippo syndrome
a)
Mucopolysaccharide disorder
b)
Purine disorder
c)
Carbohydrate disorder
120.
Impaired metabolism of mucopolysaccharides or glycosaminoglycans (protein + polysaccharides, located in the connective tissues)
a)
Mucopolysaccharide disorder
b)
Purine disorder
c)
Carbohydrate disorder
121.
Frequently found in urine are dermatan sulfate, keratan sulfate and heparan sulfate
Treatments = bone marrow transplant, gene replacement therapy
a)
Mucopolysaccharide disorder
b)
Purine disorder
c)
Carbohydrate disorder
122.
LESCH-NYHAN DISEASE
a)
Mucopolysaccharide disorder
b)
Purine disorder
c)
Carbohydrate disorder
123.
galactoesemia, glucosuria, lactosuria, fructosuria, pentosuria are an examples of
a)
Mucopolysaccharide disorder
b)
Purine disorder
c)
Carbohydrate disorder
124.
(-) Glucose strip and (+) Copper reduction test
a)
Mucopolysaccharide disorder
b)
Purine disorder
c)
Carbohydrate disorder
125.
A.k.a. Gargoylism or MPS Type I
a)
Hurler syndrome
b)
Hunter syndrome
c)
Sanfilippo syndrome
126.
(+) Skeletal abnormalities & mental retardation
a)
Hurler syndrome
b)
Hunter syndrome
c)
Sanfilippo syndrome
127.
A.k.a. MPS Type II
a)
Hurler syndrome
b)
Hunter syndrome
c)
Sanfilippo syndrome
128.
Sex-linked recessive, rarely seen in females
a)
Hurler syndrome
b)
Hunter syndrome
c)
Sanfilippo syndrome
129.
A.k.a. MPS Type III
a)
Hurler syndrome
b)
Hunter syndrome
c)
Sanfilippo syndrome
130.
Mental retardation is the only abnormality
a)
Hurler syndrome
b)
Hunter syndrome
c)
Sanfilippo syndrome
131.
MPS accumulate in the cornea of the eye
a)
Hurler syndrome
b)
Hunter syndrome
c)
Sanfilippo syndrome
132.
Hunter syndrome
a)
Mucopolysaccharide disorder
b)
Purine disorder
c)
Carbohydrate disorder
133.
Which screening test for MPS disorders yields white turbidity (+) result?
a)
Acid albumin
b)
5% Cetyltrimethylammoniumbromide (CTAB) test
c)
Mucopolysaccharide (MPS) Paper Test
d)
Molecular analysis
134.
Which screening test for MPS disorders yields blue color (+) result?
a)
Acid albumin
b)
5% Cetyltrimethylammoniumbromide (CTAB) test
c)
Mucopolysaccharide (MPS) Paper Test
d)
Molecular analysis
135.
Also known as metachromatic staining spot test
a)
Acid albumin
b)
5% Cetyltrimethylammoniumbromide (CTAB) test
c)
Mucopolysaccharide (MPS) Paper Test
d)
Molecular analysis
136.
Which of the ff. is a confirmatory test for MPS disorders?
a)
Acid albumin
b)
5% Cetyltrimethylammoniumbromide (CTAB) test
c)
Mucopolysaccharide (MPS) Paper Test
d)
Molecular analysis
137.
(-) gene that codes for the enzyme hypoxanthine guanine phosphoribosyltransferase
a)
Alkaptonuria
b)
Lesch-nyhan disease
c)
Maple syrup urine disease
d)
Tyrosinemia
138.
Increased uric acid in the blood and urine; aka orange sand in diapers
a)
Alkaptonuria
b)
Lesch-nyhan disease
c)
Maple syrup urine disease
d)
Tyrosinemia
139.
presence of any sugar in urine
a)
Melituria
b)
Glucosuria
c)
Fructosuria
d)
Pentosuria
e)
Galactosuria
140.
Inability to metabolize galactose to glucose
a)
Melituria
b)
Glucosuria
c)
Fructosuria
d)
Pentosuria
e)
Galactosuria
141.
Enzymes absent:
✓ Galactose-1-phosphate uridyl transferase (GALT) = severe and fatal
☑ Galactokinase (GALK)
✓ UDP-galactose-4-epimerase (GALE)
a)
Melituria
b)
Glucosuria
c)
Fructosuria
d)
Pentosuria
e)
Galactosuria
142.
↑Galactitol, galactonate and galactose-1-phosphate
Associated with infant failure to thrive, liver disorders, cataracts and severe mental retardation
a)
Melituria
b)
Glucosuria
c)
Fructosuria
d)
Pentosuria
e)
Galactosuria
143.
Diabetes mellitus
a)
Melituria
b)
Glucosuria
c)
Fructosuria
d)
Pentosuria
e)
Galactosuria
144.
associated with parenteral feeding
a)
Lactosuria
b)
Glucosuria
c)
Fructosuria
d)
Pentosuria
e)
Galactosuria
145.
seen during pregnancy and lactation
a)
Lactosuria
b)
Glucosuria
c)
Fructosuria
d)
Pentosuria
e)
Galactosuria
146.
associated with ingestion of large amounts of fruit
a)
Lactosuria
b)
Glucosuria
c)
Fructosuria
d)
Pentosuria
e)
Galactosuria
100 %
