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CLINICAL MICROSCOPY > PHENYLALANINE-TYROSINE DISORDERS > Flashcards

PHENYLALANINE-TYROSINE DISORDERS Flashcards

1
Q

PHENYLALANINE-TYROSINE DISORDERS

A

Phenylketonuria
Tyrosyluria and tyrosinemia
Alkaptonuria
Melanuria

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2
Q

MOST WELL-KNOWN OF THE AMINOACIDURIAS

A

PHENYLKETONURIA

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3
Q

PHENYLKETONURIA

  1. DEFECT
  2. Urine odor
  3. Screening tests
  4. Confirmatory test
A
  1. (-) Gene for PHENYLALANINE HUDROXYLASE
  2. Mousy odor
  3. FeCl3 tube test
    Phenistix strip
    Guthrie bacterial inhibition test
  4. Ion exchange HPLC
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4
Q

PHENYLKETONURIA: Test Results

  1. FeCl3 tube test
  2. Phenistix strip
A
  1. (+) Blue-green

2. (+) Gray to gray-green

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5
Q

GUTHRIE BACTERIAL INHIBITION TEST PROCEDURE

A

…

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6
Q

TYPES OF TYROSINEMIA

A

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

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7
Q

Urine odor in tyrosinemia

A

RANCID BUTTER

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8
Q

Tyrosinemia/tyrosiluria may also be seen in what condition

A

SEVERE LIVER DISEASE

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9
Q

Screening tests for tyrosinemia and their results

A
  1. FeCl3 tube test: (+) transient green

2. Nitroso-naphthol: (+) orange-red

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10
Q

Confirmatory tests for TYROSINEMIA

A

Chromatography

Quantitative serum assay of tyrosine

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11
Q

Defect in ALKAPTONURIA

A

Absence of the gene which codes for HOMOGENTISIC ACID OXIDASE

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12
Q

Urine description -ALKAPTONURIA-

A

Urine darkens after becoming alkaline from standing at RT

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13
Q

ALKAPTONURIA: SCREENING TESTS AND THEIR RESULTS

A
  1. FeCl3 tube test: (+) transient blue
  2. Clinitest: (+) yellow precipitate
  3. Alkalinization of urine
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14
Q

ALKAPTONURIA: Confirmatory tests

A

PAPER/THIN LAYER CHROMATOGRAPHY

CAPILLARY ELECTROPHORESIS

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15
Q

MELANURIA: CAUSE

A

Caused by melanoma w/c secretes 5,6-dihydroxyindole —> melanogen —> melanin

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16
Q

Describe urine (MELANURIA)

A

Darkens upon air exposure

17
Q

MELANURIA: Screening tests

A
  1. FeCl3 tube test: (+) gray or black ppt
  2. Sodium nitroprusside: (+) red
  3. Ehrlich test: (+) red
18
Q

FeCl3 TUBE TEST: Result

  1. Alkaptonuria
  2. Melanuria
  3. Phenylketonuria
  4. Tyrosinemia/tyrosiluria
A
  1. Transient blue
  2. Gray/black
  3. Blue-green
  4. Transient green

CLINICAL MICROSCOPY (13 decks)

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