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MTAP 2 AUBF > 10.1 Metabolic disorder > Flashcards

10.1 Metabolic disorder Flashcards

1
Q

Inborn error of metabolism due to enzyme deficiency is term as?

A

Overflow

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2
Q

Failure of PCT reabsorption is term as?

A

Renal

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3
Q

Phenylketonuria

Manifestation include mental retardation

a. Phenylalanine hydroxylase Deficiency
b. Enzyme deficiency or liver disease
c. Homogentisic acid Oxidase deficiency
d. Overproliferation of melanin-producing cells

A

a

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4
Q

Mousy Color

a. Phenylalanine hydroxylase Deficiency
b. Enzyme deficiency or liver disease
c. Homogentisic acid Oxidase deficiency
d. Overproliferation of melanin-producing cells

A

a

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5
Q

Tyrosinuria

a. Phenylalanine hydroxylase Deficiency
b. Enzyme deficiency or liver disease
c. Homogentisic acid Oxidase deficiency
d. Overproliferation of melanin-producing cells

A

b

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6
Q

Nitrosonapthol test: RED (+)

a. Phenylalanine hydroxylase Deficiency
b. Enzyme deficiency or liver disease
c. Homogentisic acid Oxidase deficiency
d. Overproliferation of melanin-producing cells

A

b

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7
Q

Melanuria

a. Phenylalanine hydroxylase Deficiency
b. Enzyme deficiency or liver disease
c. Homogentisic acid Oxidase deficiency
d. Overproliferation of melanin-producing cells

A

d

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8
Q

Black colored urine when pH turns ALKALINE

a. Phenylalanine hydroxylase Deficiency
b. Enzyme deficiency or liver disease
c. Homogentisic acid Oxidase deficiency
d. Overproliferation of melanin-producing cells

A

c

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9
Q

Black color urine when expose to air

a. Phenylalanine hydroxylase Deficiency
b. Enzyme deficiency or liver disease
c. Homogentisic acid Oxidase deficiency
d. Overproliferation of melanin-producing cells

A

d

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10
Q

Alkaptonuria

a. Phenylalanine hydroxylase Deficiency
b. Enzyme deficiency or liver disease
c. Homogentisic acid Oxidase deficiency
d. Overproliferation of melanin-producing cells

A

c

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11
Q

ACetest: RED (+)

a. Phenylalanine hydroxylase Deficiency
b. Enzyme deficiency or liver disease
c. Homogentisic acid Oxidase deficiency
d. Overproliferation of melanin-producing cells

A

d

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12
Q

Silver nitroprusside: BLACK (+)

a. Phenylalanine hydroxylase Deficiency
b. Enzyme deficiency or liver disease
c. Homogentisic acid Oxidase deficiency
d. Overproliferation of melanin-producing cells

A

c

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13
Q

Maple syrup Urine disease

a. Deficiency in decarboxylases
b. IsoValeryl CoA Deficiency
c. Renal Defect
d. Carinoid tumors

A

a

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14
Q

Melanuria, MSUD, Isovaleric Acidemia, are positive in acetest due to the presence of?

A

Ketones

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15
Q

Caramel-like odor of urine

a. Deficiency in decarboxylases
b. Isovaleryl CoA Deficiency
c. Renal Defect
d. Carinoid tumors

A

a

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16
Q

Isovaleric acidemia

a. Deficiency in decarboxylases
b. Isovaleryl CoA Deficiency
c. Renal Defect
d. Carinoid tumors

A

b

17
Q

Sweaty feet odor of urine

a. Deficiency in decarboxylases
b. Isovaleryl CoA Deficiency
c. Renal Defect
d. Carinoid tumors

A

b

18
Q

Hartnup syndrome

a. Deficiency in decarboxylases
b. Isovaleryl CoA Deficiency
c. Renal Defect
d. Carinoid tumors

A

c

19
Q

Blue diaper syndrome

a. Deficiency in decarboxylases
b. Isovaleryl CoA Deficiency
c. Renal Defect
d. Carinoid tumors

A

c

20
Q

Obermayer’s test: Blue (+)

a. Deficiency in decarboxylases
b. Isovaleryl CoA Deficiency
c. Renal Defect
d. Carinoid tumors

A

c

21
Q

Increased excretion of 5-HIAA

a. Deficiency in decarboxylases
b. Isovaleryl CoA Deficiency
c. Renal Defect
d. Carinoid tumors

A

d

22
Q

Nitrosonapthol test: Violet (+)

a. Deficiency in decarboxylases
b. Isovaleryl CoA Deficiency
c. Renal Defect
d. Carinoid tumors

A

d

23
Q

Cystinuria

a. Mucopolysaccharidoses
b. Cystathionine beta-synthase deficiency
c. Renal defect
d. Hypoxanthine-Guanine Phosphoribosyl Transferase (HGPT) Deficiency

A

c

24
Q

Positive in Cyanide Nitroprusside Test (Red purple) - 2 answers

a. Mucopolysaccharidoses
b. Cystathionine beta-synthase deficiency
c. Renal defect
d. Hypoxanthine-Guanine Phosphoribosyl Transferase (HGPT) Deficiency

A

b and c

25
Q

Homocystinuria

a. Mucopolysaccharidoses
b. Cystathionine beta-synthase deficiency
c. Renal defect
d. Hypoxanthine-Guanine Phosphoribosyl Transferase (HGPT) Deficiency

A

b

26
Q

Screening test:
- Acid Albumin Test (30 mins)
- Cetyltrimethyleammonium bromide test
- MPS paper test/Metachromatic staining spot test (Azure A dye)

a. Mucopolysaccharidoses
b. Cystathionine beta-synthase deficiency
c. Renal defect
d. Hypoxanthine-Guanine Phosphoribosyl Transferase (HGPT) Deficiency

A

a

27
Q

Lesch-Nyhan Syndrome
a. Mucopolysaccharidoses
b. Cystathionine beta-synthase deficiency
c. Renal defect
d. Hypoxanthine-Guanine Phosphoribosyl Transferase (HGPT) Deficiency

A

d

28
Q

Orange sand in diapers
a. Mucopolysaccharidoses
b. Cystathionine beta-synthase deficiency
c. Renal defect
d. Hypoxanthine-Guanine Phosphoribosyl Transferase (HGPT) Deficiency

A

d

29
Q

Deficiency in GALT

a. Galactosemia
b. Phorpyrias

A

a

30
Q

Clinitest (+) orange-Red

a. Galactosemia
b. Phorpyrias

A

a

31
Q

Same reagent with Ehrlich Reaction but with the addition of 6M or 6N HCl

a. Hoesch Test
b. Fluorescence Test
c. Free Erythrocyte Protoporphyrin
d. Cherry Red
e. Violet

A

a

32
Q

Ehrlich reaction is used to detect what component in urine?

A

Urobilinogen

33
Q

With the addtion of HCl in Ehrlich reaction, this allow detection of?

A

Porphobilinogen

34
Q

Positive indicator for Hoesch test?

a. Hoesch Test (Inverse Ehrlich Reaction):
b. Fluorescence Test
c. Free Erythrocyte Protoporphyrin
d. Cherry Red
e. Violet

A

d

35
Q

Acetylacetone is added in hoesch test to convert ALA to PBG which produces what color?

A

Cherry red

36
Q

For Uropophyin, Coproporphyrin, and protoporphyrin

a. Hoesch Test (Inverse Ehrlich Reaction):
b. Fluorescence Test
c. Free Erythrocyte Protoporphyrin
d. Cherry Red
e. Violet

A

b

37
Q

Recommended screening test for lead poisoning

a. Hoesch Test (Inverse Ehrlich Reaction):
b. Fluorescence Test
c. Free Erythrocyte Protoporphyrin
d. Cherry Red
e. Violet

A

c

MTAP 2 AUBF (40 decks)

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