Chapter 8: 1.1 - Phenylalanine-Tyrosine Disorder

Question 1

Phenylketonuria:

enzyme not inherited

Answer 1

(PAH) phenylalanine hydroxylase

Question 2

where is PAH produced

Answer 2

liver

Question 3

other name for phenylketonuria

Answer 3

phenylpyruvic oligophrenia

Question 4

• severe mental retardation
• mousy odor
• light skin and hair
• microencephally

Answer 4

PKU

Question 5

Test for PKU (6)

Answer 5

1. newborn screening
2. Guthrie Test
3. Automated Technique
4. Ferric Chloride
5. Phenistix
6. HPLC

Question 6

PKU:
most well known
-positive: bacterial culture

Answer 6

Guthrie test

Question 7

PKU:

positive for Ferric Chloride Test

Answer 7

blue-green

Question 8

PKU:

Phenistix (+)

Answer 8

Blue-gray to green-gray

Question 9

PKU:

reference method

Answer 9

HPLC

Question 10

• classification of tyrosinemia (3)

Answer 10

a. transitory tyrosinemia
b. acquired tyrosinemia
c. hereditary tyrosinemia

Question 11

Manifestation:

-rancid odor.

Answer 11

Tyrosinuria

Question 12

Type 1 tyrosenemia

Answer 12

Tyrosinosis

Question 13

• renal tubular disorder
• progressive liver failure in infants soon after birth
• rickets
• acute intermittent porphyria-like
• aminoaciduria

Answer 13

Type 1 Tyrosenemia

Question 14

Type 2 tyrosinemia

Answer 14

Richner-Hanhart syndrome

Question 15

• corneal erosion and lesions on the palms, fingers, and soles
• mental retardation

Answer 15

Type 2 tyrosinemia

Question 16

Tyrosinuria Tests: (4)

Answer 16

1. Nitrosonaphthol Test
2. Millon’s Test
3. Ferric Chloride test
4. Phenistix

Question 17

Tyrosinuria Tests:
Nitrosonapthol color
-specificity

Answer 17

orange-red

nonspecific

Question 18

Tyrosinuria Tests:
Millon’s Test
Color
reagent

Answer 18

red precipitate

Mercury in conc. HNO3

Question 19

Tyrosinuria Tests:
Ferric Chloride
color

Answer 19

transient green

Question 20

Tyrosinuria Tests:
Phenistix
color

Answer 20

transient green

Question 21

-the second pathway for tyrosine is responsible for the production of..

Answer 21

1. melanine
2. thyroxine
3. epinephrine
4. protein
5. tyroxine sulfate

Question 22

Confirmatory test for Tryosinuria

2

Answer 22

chromatography

quantitative serum assay of tyrosine

Question 23

• produces darkening of urine after exposure to air

Answer 23

Melanuria

Question 24

Melanuria tests:
Ferric chloride
color

Answer 24

gray or black precipitate

Question 25

Melanuria tests:

Ehrlich’s test

Answer 25

red

Question 26

Melanuria tests: (2)

Answer 26

Ferric chloride

Erhlich’s test

Question 27

Tyrosyluria test: (6)

Answer 27

1. Nitrosonaphthol test
2. Millon’s test
3. Ferric Chloride test
4. Phenistix
5. Chromatography
6. Quantitative serum assay of tyrosine

Question 28

• rare IEM disease characterized by excretion of homogentisic acid, or “alkapton, in the urine

Answer 28

Alkaptonuria

Question 29

enzyme not inherited in alkpatonuria

Answer 29

homogentisic acid

Question 30

Alkaptonuria = alkali lover

why?

Answer 30

urine darkens after becoming alkaline in room temp

Question 31

diagnosed in neonates when diapers stains “brown or black” -cloth diapers

Answer 31

alkaptonuria

Question 32

deposites of alkapton in the cartilage eventually lead to..

Answer 32

arthritis

Question 33

Alkaptonuria test: (4)

Answer 33

1. Ferric chloride
2. Benedict’s test
3. Chromatography
4. capillary electrophoresis

Question 34

Alkaptonuria tests:
confirmatory tests (2)

Answer 34

chromotography

capillary electrophoresis

Question 35

Alkaptonuria tests:
ferric chloride
color

Answer 35

transient deep blue

Question 36

Alkaptonuria tests:

benedict’s or clinitest

Answer 36

yellow precipitate

Question 37

Phenylalanine-Tyrosine Disorders (4)

Answer 37

1. Phenylketonuria
2. Tyrosinuria
3. Melinuria
4. Alkaptonuria