Schmitt

Question 1

Hatnup’s Disease (Blue diaper sundrome)

• Defect
• Symptoms
• treatment
• diagnoses

Answer 1

• Defect in transport system for neutral and aromatic amino acids from the gut and renal tubules (tryptophan)
• similar to pellagra (niacin deficiency) 4 Ds, diarrhea, dermatitis, dementia, and death
• administration of niacin
• symptoms of pellagra w/ high levels of neutral and aromatic amino acids in urine and feces

Question 2

Cystinuria

• defect
• symptoms
• treatment

Answer 2

• defect in transport system for basic amino acids and cystine
• cystine is insoluble, forms crystals that cause UTIs or stones
• fluids, penicillamine (reacts w. cystine to make it more soluble)

Question 3

Allergies

Answer 3

a

Question 4

Cystic fibrosis

Answer 4

faulty CFTR Cl- channel in the pancreas, leads to thicken secretions, hardening of pancreatic duct, not enough digestive enzymes being released into lumen (Treat with supplements of pancreatic enzymes)

Question 5

Kwashiorkor

Answer 5

starvation, inability to synthesize protein because of a lack in essential amino acids (not getting them from diet of nothingness), distended belly

Question 6

Liver Failure

Answer 6

a

Question 7

Argininosuccinic aciduria

Answer 7

a

Question 8

Hyperammoniemia: defect, blood, urine,

Answer 8

a

Question 9

Citrullinemia

Answer 9

a

Question 10

Hyperornithinemia

Answer 10

a

Question 11

Maple Syrup Urine Disease

Answer 11

a

Question 12

Phenylketonuria

Answer 12

a

Question 13

Atypical PKU

Answer 13

a

Question 14

Alkaptonuria

Answer 14

a

Question 15

Pellagra

Answer 15

lack of tryptophan (people who are on a high corn diet), four D’s diarrhea, dementia, dermatitis (red neck), death

Question 16

Homocystinuria

Answer 16

a

Question 17

Parkinson’s Disease

Answer 17

a

Question 18

Albinism

Answer 18

a

Question 19

Spina bifida

Answer 19

a

Question 20

Arthritis

Answer 20

a

Question 21

Cystathionuria

Answer 21

a

Question 22

Pernicious Anemia

Answer 22

a

Question 23

Methylmalonic aciduria

Answer 23

a

Question 24

Gout

Answer 24

a

Question 25

Lesch Nyhans

Answer 25

a

Question 26

Orotic aciduria

Answer 26

a

Question 27

Lead poisoning

Answer 27

a

Question 28

Congenital erythropoietic porphyria

Answer 28

a

Question 29

Acute intermittent porphyria

Answer 29

a

Question 30

Porphyria Cutanea Tarda

Answer 30

a

Question 31

Thalasemia

Answer 31

a

Question 32

Jaundice

Answer 32

a

Question 33

Crigler Najjar Syndrome

Answer 33

a

Question 34

Sickle cell

Answer 34

a

Question 35

Hepatitis

Answer 35

a

Question 36

Cirrhosis

Answer 36

a

Question 37

Gall stones

Answer 37

a

Question 38

Pancreatic cancer

Answer 38

a

Question 39

Neonatal jaundice

Answer 39

a

Question 40

How are proteins degraded

Answer 40

a

Question 41

How are amino acids absorbed

Answer 41

Absorption takes place in small intestine (and kidney) via at least 5 different transport systems. All are Na or proton symporters, defects in this transport are usually mild and lead to increased amounts of AAs in the urine... There is also transcytosis

Question 42

What are the abundant amino acids (2)

Answer 42

Glutamine (glutamate) and alanine

Question 43

What are the essential amino acids (10)

Answer 43

histidine, isoleucine, lysine, methionine, phenylalanine, threonine, tryptophan, valine, arginine (cysteine if methionine is low, tyrosine if phenylalanine is low)

Question 44

What is nitrogen balance? Positive Balance? Negative Balance

Answer 44

- total daily nitrogen loss in urine, skin, and feces - Nitrogen loss is less than intake (growing, body building) - Nitrogen loss are more than intake (malnourished, weight loss, wasting disease)

Question 45

What are amino acids used for

Answer 45

a

Question 46

What is the urea cycle

Answer 46

body converts free ammonia (toxic) to urea which is water soluble, carries two ammonia groups, and can be excreted in the urine

Question 47

How do humans deal with and dispose of ammonia

Answer 47

ammonia is turned into urea or picked up and carried by amino acids like glutamate, glutamine, or alanine

Question 48

What is pyridoxyl phosphate

Answer 48

(vitamin b6) cofactor used by transaminase enzymes

Question 49

What is a transamination reaction

Answer 49

transfer of an amino group from an amino acid to an alpha-keto acid to form a new amino acid and a new keto acid

Question 50

What are metabolic diseases associated with the urea cycle

Answer 50

a

Question 51

How does the ammonia group in a protein I eat end up in urea

Answer 51

ammonia is released during catabolism of amino acids, is picked up and turned into carbamoylphosphate (w. CO2) and enters the urea cycle

Question 52

Why do I need to know all this metabolism

Answer 52

a

Question 53

Concentration of free amino acids

Answer 53

Much higher inside cell than outside, gradient maintained by active transport of amino acids into cell

Question 54

Most abundant amino acids in serum

Answer 54

glutamine and alanine