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MCP > Schmitt > Flashcards

Schmitt Flashcards

1
Q

Hatnup’s Disease (Blue diaper sundrome)

  • Defect
  • Symptoms
  • treatment
  • diagnoses
A
  • 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
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2
Q

Cystinuria

  • defect
  • symptoms
  • treatment
A
  • 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)
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3
Q

Allergies

A

a

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4
Q

Cystic fibrosis

A

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)

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5
Q

Kwashiorkor

A

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

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6
Q

Liver Failure

A

a

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7
Q

Argininosuccinic aciduria

A

a

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8
Q

Hyperammoniemia: defect, blood, urine,

A

a

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9
Q

Citrullinemia

A

a

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10
Q

Hyperornithinemia

A

a

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11
Q

Maple Syrup Urine Disease

A

a

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12
Q

Phenylketonuria

A

a

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13
Q

Atypical PKU

A

a

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14
Q

Alkaptonuria

A

a

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15
Q

Pellagra

A

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

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16
Q

Homocystinuria

A

a

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17
Q

Parkinson’s Disease

A

a

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18
Q

Albinism

A

a

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19
Q

Spina bifida

A

a

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20
Q

Arthritis

A

a

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21
Q

Cystathionuria

A

a

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22
Q

Pernicious Anemia

A

a

23
Q

Methylmalonic aciduria

A

a

24
Q

Gout

A

a

25
Q

Lesch Nyhans

A

a

26
Q

Orotic aciduria

A

a

27
Q

Lead poisoning

A

a

28
Q

Congenital erythropoietic porphyria

A

a

29
Q

Acute intermittent porphyria

A

a

30
Q

Porphyria Cutanea Tarda

A

a

31
Q

Thalasemia

A

a

32
Q

Jaundice

A

a

33
Q

Crigler Najjar Syndrome

A

a

34
Q

Sickle cell

A

a

35
Q

Hepatitis

A

a

36
Q

Cirrhosis

A

a

37
Q

Gall stones

A

a

38
Q

Pancreatic cancer

A

a

39
Q

Neonatal jaundice

A

a

40
Q

How are proteins degraded

A

a

41
Q

How are amino acids absorbed

A

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

42
Q

What are the abundant amino acids (2)

A

Glutamine (glutamate) and alanine

43
Q

What are the essential amino acids (10)

A

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

44
Q

What is nitrogen balance?
Positive Balance?
Negative Balance

A
  • 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)
45
Q

What are amino acids used for

A

a

46
Q

What is the urea cycle

A

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

47
Q

How do humans deal with and dispose of ammonia

A

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

48
Q

What is pyridoxyl phosphate

A

(vitamin b6) cofactor used by transaminase enzymes

49
Q

What is a transamination reaction

A

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

50
Q

What are metabolic diseases associated with the urea cycle

A

a

51
Q

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

A

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

52
Q

Why do I need to know all this metabolism

A

a

53
Q

Concentration of free amino acids

A

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

54
Q

Most abundant amino acids in serum

A

glutamine and alanine

MCP (1 decks)

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