Lecture: Urine Screening for Metabolic Disorders Flashcards by Tristan Buenvenida

Q

Failure to inherit a gene to produce enzyme phenylalanine hydroxylase

A

Phenylketonuria

How well did you know this?

1

Not at all

2

3

4

5

Perfectly

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

How well did you know this?

1

Not at all

2

3

4

5

Perfectly

Q

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

A

Melanuria

How well did you know this?

1

Not at all

2

3

4

5

Perfectly

Q

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

A

Alkaptonuria

How well did you know this?

1

Not at all

2

3

4

5

Perfectly

Q

Failure to inherit the gene to produce enzyme homogentisic acid oxidase

A

Alkaptonuria

How well did you know this?

1

Not at all

2

3

4

5

Perfectly

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

How well did you know this?

1

Not at all

2

3

4

5

Perfectly

Q

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

A

Maple Syrup Urine Disorder (MSUD)

How well did you know this?

1

Not at all

2

3

4

5

Perfectly

Q

Amino acids involved in MSUD

A

Leucine
Isoleucine
Valine

How well did you know this?

1

Not at all

2

3

4

5

Perfectly

Q

Screening test used for MSUD

A

2,4-dinitrophenylhydrazine (DNPH) urine screening test

How well did you know this?

1

Not at all

2

3

4

5

Perfectly

Q

Positive reaction on DNPH urine screening test produces?

A

Yellow turbidity/precipitate

How well did you know this?

1

Not at all

2

3

4

5

Perfectly

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

How well did you know this?

1

Not at all

2

3

4

5

Perfectly

Q

Three most frequently encountered organic acidemia are?

A

Isovaleric Acidemia
Propionic Acidemia
Methylmalonic Acidemia

How well did you know this?

1

Not at all

2

3

4

5

Perfectly

Q

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

A

Indicanuria

How well did you know this?

1

Not at all

2

3

4

5

Perfectly

Q

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

A

Hartnup disease

How well did you know this?

1

Not at all

2

3

4

5

Perfectly

Q

These tests/reactions is used to detect what disorder?

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

A

Phenylketonuria

How well did you know this?

1

Not at all

2

3

4

5

Perfectly

Q

These tests/reactions is used to detect what disorder?

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

A

Tyrosyluria

How well did you know this?

1

Not at all

2

3

4

5

Perfectly

Q

These tests/reactions is used to detect what disorder?

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

A

Melanuria

How well did you know this?

1

Not at all

2

3

4

5

Perfectly

Q

These tests/reactions is used to detect what disorder?

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

A

Alkaptonuria

How well did you know this?

1

Not at all

2

3

4

5

Perfectly

Q

These tests/reactions is used to detect what disorder?

FeCl3: violet with chloroform
Obermayer’s Test

A

Indicanuria

How well did you know this?

1

Not at all

2

3

4

5

Perfectly

Q

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

A

Argentaffinoma

How well did you know this?

1

Not at all

2

3

4

5

Perfectly

Q

Serotonin-rich diet

Study These Flashcards

A

Banana
Tomatoes
Pineapple

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?

Study These Flashcards

A

False. Serotonin is produced by tryptophan

Q

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

Study These Flashcards

A

Carcinoid tumors

Q

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

Study These Flashcards

A

Cystinuria

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

Cystinosis

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

Homocystinuria

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

True

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

False. Increased homocystine produces these results

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

True

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

Uroporphyrin Coproporphyrin Protoporphyrin

What are the porphyrin precursors?

α -aminolevulinic acid (ALA) porphobilinogen

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

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

The two screening tests for porphyrinuria are?

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

What type of porphyria is being described? Increased ALA porphobilinogen Tested by Urine/Ehrlich reaction

Acute intermittent porphyria

What type of porphyria is being described? Increased uroporphyrin Tested by urine fluorescence

Porphyria cutanea tarda

What type of porphyria is being described? Increased uroporphyrin and coproporphyrin Tested by urine/feces fluorescence

Congenital erythropoietic porphyria

What type of porphyria is being described? Increased porphyrin Tested by bile or feces fluorescence

Variegate porphyria

What type of porphyria is being described? Increased protoporphyrin Tested by blood FEP and bile/feces fluorescence

Erythropoietic porphyria

What type of porphyria is being described? Increased ALA and protopophyrin Tested by acetoacetic acid + urine/Ehrlich reaction or Blood FEP

Lead poisoning

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

Dermatan sulfate Keratan sulfate Heparan sulfate

Types of mucopolysaccharidoses

Hurler Syndrome Hunter Syndrome Sanflippo Syndrome

Mucopolysaccharide screening tests that produces white turbidity in positive reaction

Acid-Albumin Cetyltrimethylammonium bromium (CTAB)

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

Metachromatic staining

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

Lesch-Nyhan Disease

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

Hypoxanthine-guanine phosphoribosyltransferase

The presence of increased urinary sugar is known as?

Melituria

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?

True

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

Galactosuria

What dysfunctional defect is described in these disorders? Phenylketonuria Tyrosinemia Alkaptonuria MSUD Organic Acidemia Cystinosis Porphyria Mucopolysaccharidoses Galactosemia Lesch-Nyhan Disease

Overflow Inherited

What dysfunctional defect is described in these disorders? Infantile tyrosinemia Melanuria Indicanuria 5-HIAA Porphyria

Metabolic

What dysfunctional defect is described in these disorders? Hartnup Disease Cystinuria

Renal