Unit 6

Question 1

case for metabolic diseases

Answer 1

Anabolism

Question 2

Which metabolic disorder can be detected using the Benedict Test, Ferric Chloride Test, and Silver Nitrate Test?

Answer 2

Alkaptonuria

Question 3

Which metabolic disorders can be detected using Ferric chloride test?

Answer 3

MSUD, Melanuria, PKU

Question 4

Which metabolic disorder can be detected using Hoesch Test?

Answer 4

Prophyria

Question 5

Which metabolic disorder can be detected using Nitorsonaphthol test?

Answer 5

Tyrosinuria

Question 6

Which metabolic disorder can be detected using Watson-Schwartz test?

Answer 6

Prophyria

Question 7

metabolic pathway becomes
overwhelmed because of the excess substrate

Answer 7

Overflow type

Question 8

occurs within the kidneys to regulate the
body’s internal environment

Answer 8

Renal Type

Question 9

where fatty acids are metabolized to smaller
molecules to produce energy where it goes
to Acetyl Coenzyme A in the mitochondria

Answer 9

Beta-oxidative metabolism

Question 10

process where Acetyl CoA is converted to
ketones during fasting or low carbohydrate
intake or prolonged exercise

Answer 10

Ketogenesis

Question 11

breakdown of glucose producing.

Answer 11

Glycolysis

Question 12

synthesis of glycogen

Answer 12

Glycogenesis

Question 13

breakdown of glycogen

Answer 13

Glycogenolysis

Question 14

production of glucose from noncarbohydrate
sources (e.g. amino acids, lipid)

Answer 14

Gluconeogenesis

Question 15

inherited (i.e., genetic) disorder due to genetic anomalies

Answer 15

Inborn error

Question 16

chemical or physical changes undergone by substances in a biological system

Answer 16

Metabolism

Question 17

where the idea of IEM came from

Answer 17

GARRODʼS HYPOTHESIS

Question 18

Sex-linked enzyme defect; most common
enzyme deficiency in the hexose
monophosphate shunt.

Answer 18

GLUCOSE-6-PHOSPHATE DEHYDROGENASE (G6PD)
DEFICIENCY

Question 19

methodology is capable of screening for specific
substances associated with particular IEMs.

Answer 19

NEWBORN SCREENING TESTS

Question 20

defect in the phenylalanine—tyrosine pathway

Answer 20

PHENYLALANINE-TYROSINE DISORDERS

Question 21

• Most well known of the aminoacidurias
• When normal conversion of phenylalanine
  to tyrosine is disrupted
• lighter hair
  and eyes—even in dark-skinned families
• decreased production of tyrosine and its pigmentation
  metabolite melanin

Answer 21

PHENYLKETONURIA (PKU)

Question 22

failure to inherit the gene to produce enzyme

Answer 22

phenylalanine hydroxylase

Question 23

Infants having liver conditions are required to produce
enzymes for tyrosine metabolism

Answer 23

TYROSYLURIA

Question 24

• 2nd pathway in tyrosine metabolism
• Responsible for the production of melanin, thyroxine, epinephrine, protein, tyrosine sulfate
• Darkening of urine after its exposed to air

Answer 24

MELANURIA

Question 25

pigment in hairs, skin, eyes

Answer 25

Melanin

Question 26

Melanin is produced by

Answer 26

melanocytes

Question 27

- Rare inherited autosomal recessive trait - Failure to inherit the gene for the production of oxidative decarboxylation of these ketoacids leading to accumulation in blood and urine

Answer 27

MAPLE SYRUP URINE DISEASE (MSUD)

Question 28

- increased amounts of tryptophan are converted to indole - reabsorbed from the intestine into the bloodstream and circulated to the liver, where it is converted to indican and then excreted in the urine

Answer 28

INDICANURIA

Question 29

Hartnup Disease is also known as

Answer 29

blue diaper syndrome

Question 30

2nd metabolic pathway of tryptophan is for the production of serotonin in the stimulation of smooth muscles

Answer 30

5-Hydroxyindoleacetic Acid (5-HIAA)

Question 31

intermediate compounds in the production of heme

Answer 31

Porphyrin

Question 32

3 primary porphyrins

Answer 32

Uroporphyrin, Coproporphyrin & Protoporphyrin

Question 33

group of inherited disorders characterized by a block in the protoporphyrin pathway of heme synthesis.

Answer 33

PORPHYRIAS

Question 34

- located primarily in the connective tissue. - Inherited disorders in the metabolism prevents the complete breakdown of polysaccharide portion of compounds, resulting in accumulation of incompletely metabolized polysaccharide, increase in urine.

Answer 34

MUCOPOLYSACCHARIDE DISORDERS

Question 35

thick, white turbidity forms is observed in these tests

Answer 35

Acid-albumin & cetyltrimethylammonium bromide turbidity test

Question 36

Findings of Hurler Syndrome

Answer 36

Abnormal skeletal structure

Question 37

Findings of Hunter Syndrome

Answer 37

Severe mental retardation

Question 38

mucopolysaccharides accumulate in the cornea of the eye.

Answer 38

Hurler syndrome

Question 39

sex-linked recessive and is seen rarely in females

Answer 39

Hunter syndrome

Question 40

- Excessive excretion of urinary uric acid crystals - Failure to inherit the gene to produce hypoxanthine guanine phosphoribosyltransferase (responsible for the accumulation of uric acid throughout the body)

Answer 40

PURINE DISORDERS

Question 41

Disorder in purine metabolism

Answer 41

Lesch-Nyhan Disease

Question 42

increased urinary sugar

Answer 42

Melituria

Question 43

inability to metabolize galactose to glucose

Answer 43

Galactosuria

Question 44

Deficiency in any of the following: galactose-1-phosphate uridyl transferase (GALT), galactokinase and UDP-galactose-4-epimerase

Answer 44

CARBOHYDRATE DISORDERS