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AUBF > URINE METABOLIC DISORDERS (Phenylalanine-Tyrosine disorders) > Flashcards

URINE METABOLIC DISORDERS (Phenylalanine-Tyrosine disorders) Flashcards

1
Q

What type of overflow condition results in increased amino acids in blood and urine?

A

PKU, MSUD, Cystinosis

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2
Q

What is the renal type aminoaciduria with normal amino acids in blood and increased amino acids in urine?

A

Cystinuria, Fanconi’s syndrome

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3
Q

What disorders are categorized as phenylalanine-tyrosine disorders?

A

Phenylketonuria, Tyrosyluria/Tyrosenemia, Alkaptonuria, Melanuria

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4
Q

What gene is absent in Phenylketonuria?

A

Phenylalanine hydroxylase

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5
Q

What causes other forms of phenylketonuria?

A

Tetrahydrobiopterin deficiency

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6
Q

What is the odor associated with phenylketonuria?

A

Mousy urine, sweat, breath odor

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7
Q

What condition may phenylketonuria lead to?

A

Mental retardation

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8
Q

What is the positive result for the FeCl3 tube test for phenylketonuria?

A

Blue-green color

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9
Q

What is the positive result for the Phenistix strip test for phenylketonuria?

A

Gray to gray-green color

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10
Q

What does a positive Guthrie bacterial inhibition test show?

A

Growth in the media

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11
Q

Which counteracts the action of B2-thienylalanine in the Guthrie bacterial inhibition test?

A

Phenylalanine

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12
Q

What is the confirmatory test for Phenylketonuria?

A

Ion exchange HPLC

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13
Q

What is absent in Type 1 tyrosyluria?

A

Fumarylacetoacetate hydrolase (FAH)

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14
Q

What is absent in Type 2 tyrosyluria?

A

Tyrosine aminotransferase

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15
Q

What is absent in Type 3 tyrosyluria?

A

p-hydroxyphenylpyruvic acid dioxygenase

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16
Q

In which condition may tyrosyluria/tyrosinemia also be seen?

A

Severe liver disease

17
Q

What is the urine odor in tyrosinemia?

A

Rancid butter

18
Q

What is the positive result for the FeCl3 screening test for tyrosinemia?

A

Transient green

19
Q

What is the positive result for the Nitroso-napthol screening test for tyrosinemia?

A

Orange-red

20
Q

What is the confirmatory test for tyrosinemia?

A

Chromatography, quantitative serum assay of tyrosine

21
Q

What testing method is used for error of metabolism?

A

Tandem mass spectrophotometry (MS/MS)

22
Q

What enzyme is related to Tyrosinemia type 1b?

A

Maleylacetoacetic acid isomerase

23
Q

What enzyme is related to Tyrosinemia type 1a?

A

Fumarylacetoacetoacetic acid hydrolase

24
Q

What gene is absent in Alkaptonuria?

A

Homogentisic acid oxidase

25
Q

When does urine darken in Alkaptonuria?

A

After standing at room temperature (alkaline)

26
Q

What color does Alkaptonuria stain cloth diapers?

A

Brown or black

27
Q

What color do disposable plastic diapers stain in Alkaptonuria?

A

Reddish

28
Q

What pigmentation does homogentisic acid cause in connective tissues and ears in Alkaptonuria?

A

Black pigment (onchronosis)

29
Q

What is the treatment for Alkaptonuria?

A

Vitamin C

30
Q

What is the accumulation of Homogentisic Acid Oxidase in connective tissue called?

A

Onchrosis

31
Q

What are the positive results for the FeCl3, Clintest, and Silver nitrate tests for Alkaptonuria?

A

FeCl3 - transient blue, Clintest - yellow ppt, Silver nitrate - black color

32
Q

What is the confirmatory test for Alkaptonuria?

A

Paper/Thin layer chromatography
Capillary electrophoresis
GC-MS

33
Q

What condition causes melanuria?

A

Melanoma

34
Q

What substance does melanoma secrete to oxidize melanogen to melanin?

A

5,6-dihydroxyindole

35
Q

When does urine darken in melanuria?

A

Upon oxidation (air exposure)

36
Q

What condition can melanuria lead to due to deficient melanin production?

A

Albinism

37
Q

What are the positive results for the screening tests for melanuria?

A

FeCl3 - gray/black ppt

Sodium nitroprusside - red color

Ehrlich test - red color

AUBF (26 decks)

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