2S [LEC]: Metabolic Diseases

Question 1

Metabolic disorder type that is a result of the absence or defect in an enzyme

Answer 1

Overflow type

Question 2

Any disease originating in our chemical individuality

Answer 2

Metabolic disease

Question 3

This hypothesis explains how the excess unconverted metabolites become toxic to the body due to the lack of enzyme that would normally convert it

Answer 3

Garrod’s hypothesis

Question 4

Program to screen for congenital and heritable disorders

Answer 4

Newborn screening tests

Question 5

RA ___ is the NBS act of 2004

Answer 5

RA 9288

Question 6

NBS tests are performed using what method?

Answer 6

Tandem mass spectrophotometry (MS/MS)

Question 7

The first tyrosine metabolism converts tyrosine to ___

Answer 7

p-Hydroxyphenylpyruvic acid

Question 8

The second tyrosine metabolism converts tyrosine to ___

Answer 8

Melanine
Thyroxine
Epinephrine

Question 9

Most well-known of the aminoacidurias

Answer 9

Phenylketonuria

Question 10

Odor of urine of patients with PKU

Answer 10

Mousy odor

Question 11

Condition where normal conversion of phenylalanine to tyrosine is disrupted

Answer 11

PKU

Question 12

PKU is caused by failure to inherit the gene to produce which enzyme?

Answer 12

Phenylalanine hydroxylase

Question 13

Microbial inhibition method used in PKU diagnosis

Answer 13

Guthrie method

Question 14

In microbial inhibition method used in PKU diagnosis, the disk placed on culture media is streaked with what organism?

Answer 14

Bacillus subtilis

Question 15

The B. subtilis inhibitor used in microbial inhibition method used for PKU diagnosis

Answer 15

beta-2-thienylalanine

Question 16

PKU patients will have what result in microbial inhibition method?

Answer 16

B. subtilis growth

Question 17

The ferric chloride test for PKU will produce what result?

Answer 17

Permanent blue-green

Question 18

Excess tyrosine in plasma producing urinary overflow

Answer 18

Tyrosyluria

Question 19

A nonspecific test for tyrosyluria that will produce an orange-red color

Answer 19

Nitroso-naphthol

Question 20

Type of tyrosyluria that manifests as generalized renal tubular disorder and progressive liver failure in infants

Answer 20

Type 1

Question 21

Deficient enzyme in Type 1 tyrosyluria

Answer 21

Fumarylacetoacetate (FAH)

Question 22

Type of tyrosyluria that manifests as corneal erosion, palm, finger and soles lesions due to crystallization of tyrosine in cells

Answer 22

Type 2

Question 23

Deficient enzyme in type 2 tyrosyluria

Answer 23

Tyrosine amino transferase

Question 24

Type of tyrosyluria that manifests with mental retardation

Answer 24

Type 3

Question 25

Deficient enzyme in type 3 tyrosyluria

Answer 25

p-hydroxyphenyl pyruvic acid dioxygenase

Question 26

Increased metabolite in type 1 tyrosyluria patients

Answer 26

Tyrosine Succinylacetone

Question 27

Increased metabolite in type 2 tyrosyluria patients

Answer 27

Tyrosine Genetic markers 4-hydroxyphenylpyruvic acid

Question 28

Condition caused by a problem in the 2nd pathway in tyrosine metabolism

Answer 28

Melanuria

Question 29

3rd major defect in the phe-tyr pathway

Answer 29

Alkaptonuria

Question 30

Manifests with ochronosis

Answer 30

Alkaptonuria

Question 31

Result of FeCl test in alkaptonuria

Answer 31

Transient blue color

Question 32

Rare inherited autosomal recessive trait disorder where branched amino acids are involved

Answer 32

Maple syrup urine disease

Question 33

Nonspecific test for MSUD

Answer 33

2,4-dinitrophenylhydrazine (DNPH) - yellow ppt

Question 34

Also known as blue diaper syndrome

Answer 34

Hartnup disease (indicanuria)

Question 35

Result of FeCl test in indicanuria

Answer 35

Deep blue/ violet color