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AUBF Lec > Urine Screening for Metabolic Disorders > Flashcards

Urine Screening for Metabolic Disorders Flashcards

1
Q

Two types of aminoaciduria

A

Overflow type
Renal type

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2
Q

Increase Amino acid in blood
Increase Amino acid in urine
Ex. PKU, MSUD

A

Overflow type

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3
Q

Normal Amino acid in blood
Increase Amino acid in urine
*defect in tubular reabsorption
Ex. Cystinuria, Fanconi’s syndrome

A

Renal type

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4
Q
  • for identifying metabolism disorder.
  • for early detection and treatment
A
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5
Q

Newborn Screening Tests RA #______

A

9288

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6
Q

Newborn Screening Tests is done after

A

24 hrs of life

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7
Q

Newborn Screening Tests: massage the _____ of the baby for _______ and prick on the ______.

A

Heel
3 minutes
Side of the heel

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8
Q

well known aminoacidurias
(-) gene that codes for Phenylalanine hydroxylase

A

Phenylketonuria

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9
Q

Phenylketonuria clinical manifestations: (2)

A

• Mousy urine odor
• May lead to severe mental retardation

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10
Q

Phenylketonuria screening tests results:
• FeCl3 tube test:
• Phenistix strip:
• Guthrie bacterial inhibition test:
*B. subtilis is cultured with _______

A

• FeCl3 tube test: (+) blue-green color
• Phenistix strip: (+) gray to gray-green
• Guthrie bacterial inhibition test: (+) growth
*B. subtilis is cultured with β-2-thienylalanine

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11
Q

Confirmatory test for phenylketonuria

A

Ion exchange HPLC (High Performance Liquid Chromatography)

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12
Q

Tyrosyluria/Tyrosinemia Clinical manifestations:

A

• Rancid butter urine odor
• Tyrosine and Leucine crystals in urine (SEVERE LIVER DISEASE)

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13
Q

Tyrosyluria/Tyrosinemia
(-) gene that codes for:
Type 1:
Type 2:
Type 3:

A

Type 1: Fumarylacetoacetate hydrolase (FAH)
Type 2: Tyrosine aminotransferase
Type 3: p-hydroxyphenylpyruvic acid dioxygenase

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14
Q

Tyrosyluria/Tyrosinemia screening tests result:

FeCl3 tube test:
Nitroso-naphthol:

A

FeCl3 tube test: (+) transient green
Nitroso-naphthol: (+) orange-red

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15
Q

Tyrosyluria/Tyrosinemia Confirmatory tests: Confirmatory tests (2)

A

Chromatography
Quantitative serum assay of tyrosine

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16
Q

(-) gene that codes for Homogentisic acid oxidase
Urine darkens after becoming alkaline from standing at room temperature
• Brown or black stained cloth diapers • Reddish stained disposable diapers

A

ALKAPTONURIA

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17
Q

ALKAPTONURIA Clinical manifestations:

A

Dark blue to black pigmentation of cartilage and connective tissues & liver

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18
Q

ALKAPTONURIA screening test result:
• FeCl3 tube test:
• Clinitest:
_______ of fresh urine

A

• FeCl3 tube test: (+) transient blue
• Clinitest: (+) yellow precipitate
Alkalinization of fresh urine

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19
Q

Confirmatory Tests for alkaptonuria

A

• Paper/thin-layer chromatography
• Capillary electrophoresis

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20
Q

Caused by melanoma (tumor involving melanocytes)

Tumors secrete _________, which oxidizes to melanogen then to melanin

Urine darkens upon ________

A

Melanuria
5,6-dihydroxyindole
air exposure

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21
Q

Clinical manifestations of melanuria

A

Malignant melanoma

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22
Q

Melanuria screening test result:
FeCl3 tube test:
Sodium nitroprusside test:
Ehrlich test=

A

FeCl3 tube test: (+) gray/black ppt
Sodium nitroprusside test: (+) red
Ehrlich test= (+) Red

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23
Q

-most common inborn error of metabolism in the PH
(-) Gene that codes for enzyme for metabolism of the ketoacids of Leucine, Isoleucine and Valine

A

Maple Syrup Urine Disease (MSUD)

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24
Q

Clinical manifestations of Maple Syrup Urine Disease (MSUD):

A

• Caramelized sugar/Maple syrup/Curry urine odor
• Failure to thrive, mental retardation

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25
Q

Screening test for Maple Syrup Urine Disease (MSUD) result:
2,4-dinitrophenylhydrazine (DNPH):

A

2,4-dinitrophenylhydrazine (DNPH): (+) yellow turbidity/ppt

26
Q

Confirmatory Test for Maple Syrup Urine Disease (MSUD): (2)

A

Gas/Thin layer chromatography
Nuclear magnetic resonance spectro.

27
Q

What are the Organic Acidemias: (3)

A

a. Isovaleric acidemia: Sweaty feet urine odor
b. Propionic acidemia
c. Methylmalonic acidemia: detected using p-nitroaniline test : (+) emerald green color

28
Q

Indigo color of urine upon air exposure

A

Indicanuria

29
Q

Indicanuria is seen in? (2)

A

Intestinal disorders (increase level of tryptophan)
Hartnup disease= Blue diaper syndrome

30
Q

Screening test for Indicanuria result: Obermayer’s
FeCl3 + Urine + Chloroform=

A

(+) violet color

31
Q

Increase level of 5-HIAA (Hydroxyl Indole Acetic Acid) in urine (increase
serotonin)
Carcinoid tumor involving argentaffin/enterochromaffin cells/ Kulchitsky’s cells

A

Argentaffinoma

32
Q

Screening test result for Argentaffinoma:

FeCl3 tube test:
Nitrosonaphthol w/ nitrous acid:

A

FeCl3 tube test: (+) Blue-green
Nitrosonaphthol w/ nitrous acid: (+) Violet

33
Q

For individuals with Argentaffinoma, Avoid eating (6)

A

bananas
pineapples
tomatoes
chocolate
walnuts
plums

34
Q

Renal type of amino aciduria
Defective tubular reabsorption

A

Cystinuria

35
Q

Cystinuria
Renal type of amino aciduria
Defective tubular reabsorption (4)

A

• Cystine
• Ornithine
• Lysine
• Arginine

36
Q

Tests for cystinuria: (3)

A

TEST:
• Brand’s modification of Legal’s nitroprusside
Reagent: Cyanide Nitroprusside (+) Red-purple color
• Thin layer or Ion exchange chromatography
• High-voltage electrophoresis

37
Q

What disorder has sulfur in urine

A

Cystinuria

38
Q

Inborn error of metabolism􏰀 Overflow type
(-) gene that codes for an enzyme responsible for cystine metabolism
Cystine deposits in many areas of the body (BM, cornea, lymph nodes and internal organs)

A

Cystinosis

39
Q

Test for Cystinosis and result

A

• Brand’s modification of Legal’s nitroprusside
Reagent: Cyanide Nitroprusside (+) Red-purple color

40
Q

Defects in the metabolism of methionine (leads to increase homocystine)
(-) gene that codes for the enzyme cystathionine β-synthase

A

Homocystinuria

41
Q

Test result for Homocystinuria:
Silver-nitroprusside test: (+) Red-purple color

A

(+) Red-purple color

42
Q

Porphyrin Disorders (Porphyrias)
Disorders of porphyrin metabolism
Urine color:
Colorless in:

A

Porphyrin Disorders (Porphyrias)
Disorders of porphyrin metabolism
Urine color: Red/Purple/Burgundy-Red/Purplish-Red/Portwine
Colorless in: Lead poisoning

43
Q

ALA hydratase deficiency porphyria: (-) Gene that codes for

A

Aminolevulinic acid (ALA) synthetase

44
Q

Acute intermittent porphyria: (-) Gene that codes for

A

Uroporphyrinogen synthase

45
Q

Congenital erythropoietic porphyria: (-) Gene that codes for

A

Uroporphyrinogen cosynthase

46
Q

Porphyria cutanea tarda: (-) Gene that codes for

A

Uroporphyrinogen decarboxylase

47
Q

Hereditary coproporphyria: (-) Gene that codes for

A

Coproporphyrinogen oxidase

48
Q

Variegate porphyria: (-) Gene that codes for

A

Protoporphyrinogen oxidase

49
Q

SCREENING TESTS for Porphyrin Disorders (Porphyrias):

Ehrlich’s reaction=
Fluorescence at 550-600 nm=
Free erythrocyte protoporphyrin (FEP)=

A

Ehrlich’s reaction= Detects D-ALA, porphobilinogen

Fluorescence at 550-600 nm= Tests for uroporphyrin, coproporphyrin & protoporphyrin
(+) Violet/Pink/Red fluorescence

Free erythrocyte protoporphyrin (FEP)= CDC-recommended test for lead poisoning

50
Q

Impaired metabolism of mucopolysaccharides or glycosaminoglycans (protein +polysaccharides, located in the connective tissues)

A

Mucopolysaccharide (MPS) Disorders
(Mucopolysaccharidosis)

51
Q

Mucopolysaccharide (MPS) Disorders
(Mucopolysaccharidosis): Frequently found in urine are (3)

A

= dermatan sulfate
= keratan sulfate
= heparan sulfate

52
Q

MPS accumulate in the cornea of the eye
Skeletal abnormality & mental retardation present

A

MPS accumulate in the cornea of the eye
Skeletal abnormality & mental retardation present

53
Q

Sex-linked recessive, rarely seen in females Skeletal abnormality & mental retardation present

A

Hunter syndrome

54
Q

Mental retardation is the only abnormality

A

Sanfilippo syndrome

55
Q

SCREENING TEST FOR MPS (3)

A

Acid albumin
Cetyltrimethylammoniumbromide (CTAB) test
Mucopolysaccharide (MPS) Paper Test

56
Q

SCREENING TEST FOR MPS results:

  1. Acid albumin=
  2. Cetyltrimethylammoniumbromide (CTAB) test=
  3. Mucopolysaccharide (MPS) Paper Test=
A
  1. Acid albumin= (+)white turbidity
  2. Cetyltrimethylammoniumbromide (CTAB) test= (+) white turbidity
  3. Mucopolysaccharide (MPS) Paper Test (+) Blue color
57
Q

(-) gene that codes for the enzyme hypoxanthine guanine phosphoribosyltransferase
Increase uric acid in the blood and urine= “orange sand in diapers”, gout

A

Lesch-Nyhan Disease

58
Q

Inability to metabolize galactose to glucose
Associated with infant failure to thrive, liver disorders, cataracts and severe mental retardation

A

Galactosemia/Galactosuria

59
Q

seen during pregnancy and lactation

A

Lactosuria

60
Q

associated with parenteral feeding

A

Fructosuria

61
Q

associated with ingestion of large amounts of fruit

A

Pentosuria

AUBF Lec (8 decks)

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