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Analysis on Urine and other Bodily Fluids > Lecture: Urine Screening for Metabolic Disorders > Flashcards

Lecture: Urine Screening for Metabolic Disorders Flashcards

1
Q

Failure to inherit a gene to produce enzyme phenylalanine hydroxylase

A

Phenylketonuria

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2
Q

The accumulation of excess tyrosine in the plasma (tyrosinemia) producing urinary overflow may be due to several causes and is poorly categorized

A

Tyrosyluria

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3
Q

Increased urinary melanin darkens the urine. The darkening appears after the urine is exposed to air.

A

Melanuria

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4
Q

Urine from patients with this condition darkened after becoming alkaline from standing at room temperature

A

Alkaptonuria

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5
Q

Failure to inherit the gene to produce enzyme homogentisic acid oxidase

A

Alkaptonuria

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6
Q

The branched-chain amino acids differ from other amino acids by having a methyl group that branches from the main aliphatic carbon chain. True or False?

A

True

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7
Q

Caused by an inborn error of metabolism (IEM), inherited as an autosomal recessive trait

A

Maple Syrup Urine Disorder (MSUD)

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8
Q

Amino acids involved in MSUD

A

Leucine
Isoleucine
Valine

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9
Q

Screening test used for MSUD

A

2,4-dinitrophenylhydrazine (DNPH) urine screening test

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10
Q

Positive reaction on DNPH urine screening test produces?

A

Yellow turbidity/precipitate

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11
Q

Symptoms of this disorder include early severe illness, often with vomiting accompanied by metabolic acidosis, hypoglycemia, ketonuria, and increased serum ammonia

A

Organic Acidemias

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12
Q

Three most frequently encountered organic acidemia are?

A

Isovaleric Acidemia
Propionic Acidemia
Methylmalonic Acidemia

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13
Q

Indican excreted in the urine is colorless until oxidized to the dye indigo blue by exposure to air

A

Indicanuria

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14
Q

Term of “blue diaper syndrome” due to blue staining of infant’s diaper when affected

A

Hartnup disease

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15
Q

These tests/reactions is used to detect what disorder?

Guthrie test (bacterial inhibition)
FeCl3 tube: blue-green

A

Phenylketonuria

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16
Q

These tests/reactions is used to detect what disorder?

Nitroso-naphthol: orange red FeCl3 tube test: transient green

A

Tyrosyluria

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17
Q

These tests/reactions is used to detect what disorder?

Sodium nitroprusside: red Ehrlich’s: red
FeCl3: gray or black precipitate

A

Melanuria

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18
Q

These tests/reactions is used to detect what disorder?

Benedict’s/Clinitest: yellow precipitate FeCl3: transient blue

A

Alkaptonuria

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19
Q

These tests/reactions is used to detect what disorder?

FeCl3: violet with chloroform
Obermayer’s Test

A

Indicanuria

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20
Q

Characterized by increased 5-Hydroxyindoleacetic acid (5-HIAA)

A

Argentaffinoma

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21
Q

Serotonin-rich diet

A

Banana
Tomatoes
Pineapple

22
Q

Serotonin is produced from phenylalanine by the argentaffin cells in the intestine and is carried through the body primarily by the platelets. True or False?

A

False. Serotonin is produced by tryptophan

23
Q

Presence of these that involves argentaffin cells development, excess amount of serotonin is produced

A

Carcinoid tumors

24
Q

Defect in renal tubular transport of cystine, ornithine, lysine and arginine

A

Cystinuria

25
Q

Inborn error of metabolism. Cystine deposits in many areas of the body.

A

Cystinosis

26
Q

Defects in the metabolism of the amino acid methionine produce an increase in homocystine throughout the body

A

Homocystinuria

27
Q

A positive reaction in the silver-nitroprusside test confirms the presence of homocystinuria. True or False?

A

True

28
Q

The decreased homocystine can result in failure to thrive, cataracts, mental retardation, thromboembolic problems, and death. True or False?

A

False. Increased homocystine produces these results

29
Q

Fresh urine should be used when testing for homocystine. True or False?

A

True

30
Q

The basic pathway for heme synthesis have three primary porphyrins which are?

A

Uroporphyrin
Coproporphyrin
Protoporphyrin

31
Q

What are the porphyrin precursors?

A

α -aminolevulinic acid (ALA)
porphobilinogen

32
Q

Possible presence of porphyrinuria is the observation of a violet wine color to the urine after exposure to air. True or False?

A

False. Red or port-wine color of urine is observed

33
Q

The two screening tests for porphyrinuria are?

A

Ehrlich reaction
Fluorescence under UV light in the 550- to 600-nm range

34
Q

What type of porphyria is being described?

Increased ALA porphobilinogen
Tested by Urine/Ehrlich reaction

A

Acute intermittent porphyria

35
Q

What type of porphyria is being described?

Increased uroporphyrin
Tested by urine fluorescence

A

Porphyria cutanea tarda

36
Q

What type of porphyria is being described?

Increased uroporphyrin and coproporphyrin
Tested by urine/feces fluorescence

A

Congenital erythropoietic porphyria

37
Q

What type of porphyria is being described?

Increased porphyrin
Tested by bile or feces fluorescence

A

Variegate porphyria

38
Q

What type of porphyria is being described?

Increased protoporphyrin
Tested by blood FEP and bile/feces fluorescence

A

Erythropoietic porphyria

39
Q

What type of porphyria is being described?

Increased ALA and protopophyrin
Tested by acetoacetic acid + urine/Ehrlich reaction or Blood FEP

A

Lead poisoning

40
Q

The incompletely metabolized polysaccharide products most frequently found in the urine?

A

Dermatan sulfate
Keratan sulfate
Heparan sulfate

41
Q

Types of mucopolysaccharidoses

A

Hurler Syndrome
Hunter Syndrome
Sanflippo Syndrome

42
Q

Mucopolysaccharide screening tests that produces white turbidity in positive reaction

A

Acid-Albumin
Cetyltrimethylammonium bromium (CTAB)

43
Q

Azure A in acetic acid/MPS paper: blue spot is produced in what test for mucopolysaccharide?

A

Metachromatic staining

44
Q

Inherited as a sex-linked recessive result in massive excretion of urinary uric acid crystals

A

Lesch-Nyhan Disease

45
Q

Failure to inherit the gene to produce this enzyme will result to the accumulation of uric acid throughout the body

A

Hypoxanthine-guanine phosphoribosyltransferase

46
Q

The presence of increased urinary sugar is known as?

A

Melituria

47
Q

The finding of a positive copper reduction test result combined with a negative reagent strip glucose oxidase test result is strongly suggestive of a disorder of carbohydrate metabolism. True or False?

A

True

48
Q

Caused by a deficiency in any of three enzymes, galactose-1-phosphate uridyl transferase (GALT), galactokinase, and UDP-galactose-4-epimerase

A

Galactosuria

49
Q

What dysfunctional defect is described in these disorders?

Phenylketonuria
Tyrosinemia
Alkaptonuria
MSUD
Organic Acidemia
Cystinosis
Porphyria
Mucopolysaccharidoses
Galactosemia
Lesch-Nyhan Disease

A

Overflow Inherited

50
Q

What dysfunctional defect is described in these disorders?

Infantile tyrosinemia
Melanuria
Indicanuria
5-HIAA
Porphyria

A

Metabolic

51
Q

What dysfunctional defect is described in these disorders?

Hartnup Disease
Cystinuria

A

Renal

Analysis on Urine and other Bodily Fluids (17 decks)

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