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Biochemistry 1 > Metabolic Disorders (last quiz) > Flashcards

Metabolic Disorders (last quiz) Flashcards

1
Q

What are the 3 standard ways/tests to evaluate body weight and composition?

A

1) body mass index (BMI)
2) waist circumference
3) body fat percentage

note: 2 and 3 are usually done if BMI is inaccurate which is most commonly inaccurate for super muscular people or the elderly, especially women have “lean fat”

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2
Q

What are the 4 methods for finding body fat percentage?

A

1) look
2) calipers
3) bod pod
4) dexa scan (low dose x-ray imagining that will tell you where fat has accumulated)

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3
Q

What is BMI comparing?

A

height to weight ratio

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4
Q

What BMI is healthy?

A

18.5-24.9

less than 18.5 is underweight and anything over 25 is overweight, 30+ is obese

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5
Q

Waist circumference is determined by measuring the distance around the….

A

smallest area below the rib cage and above the umbilicus (belly button)

it assesses abdominal fat content
-so more than 35in in women and more then 40in in men are high risk for disease

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6
Q

What is the normal percentage of weight in males?

A

12-20%

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7
Q

What is the normal percentage of weight in females?

A

20-30%

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8
Q

T/F: weight loss shrinks cells but does not decrease the number of adipocytes

A

true

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9
Q

What is the body fat calipers test?

A

-not very accurate test
-pull fat away from muscles (1-2 in right above hip) and pinch the fat with a caliper to take measurements
-there is a chart that you then look at to see if you’re fat or not

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10
Q

What part of the body has the largest adipocytes?

A

abdomen (also has a higher rate of fat turnover than lower body like the hips)

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11
Q

Fat released from abdomen travels to the liver along with fatty acids from the diet. In the liver they are incorporated into triglycerides and can lead to….

A

insulin resistence

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12
Q

Metabolic syndrome is not a disease, but rather a cluster of disorders of the body’s metabolism including….

A

1) excess body fat (obesity)
2) high BP
3) high insulin levels (insulin resistance)
4) abnormal lipid levels (hyperlipidemia which is either high triglycerides/fat, high total cholesterol, high LDL cholesterol, or LOW HDL (good) cholesterol)

note: in order for someone to have metabolic syndrome they need to have 3/4 or 4/4 of these characteristics

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13
Q

If someone has metabolic syndrome, then they are high risk for…

A

1) diabetes
2) heart disease
3) stroke

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14
Q

What is diabetes mellitus (DM)?

A

its a group of endocrine disorders characterized by high blood glucose caused by insufficient insulin and/or ineffective insulin

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15
Q

What is the normal fasting (no food for 8+ hrs) blood glucose level?

A

70-99 mg/dl

blood glucose level 2 hrs after food should be around around 140 or less

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16
Q

What is the diagnostic criteria for diabetes?

A

-glucose in urine
-2 consecutive fasting blood glucose tests that are greater than 126 mg/dl
-2 hour oral glucose tolerance test is less than 200 mg/dl

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17
Q

What are the symptoms and complications for diabetes?

theres a lot

A

-excessive urination and thirst
-weight loss
-blurry vision (diabetic retinopathy)
-numbness in hands/feet (neuropathy)
-kidney failure (nephropathy)
-depression
-hypoglycemia
-diabetic ketoacidosis
-coma
-death

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18
Q

What is more common- DM 1 or 2?

A

type 2 DM (90-95% of cases)

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19
Q

Which DM type is an autoimmune disease?

A

type 1 DM

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20
Q

Which DM type is related to obesity?

A

type 2 DM

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21
Q

Which DM type is dependent on insulin?

A

type 1 DM

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22
Q

What is the difference between type 1 and 2 DM?

A
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23
Q

What does an excision endonuclease do?

A

enzyme that cuts out the damaged region out of the replication bubble, usually the T-T dimer and its in the middle of the chain

T-T dimers form in DNA when there is overexposure to UV light

and then DNA polymerase and ligase will rebuild new strand that was cut out and glue it together

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24
Q

What is xeroderma pigmentosum?

A

its an excision endonuclease deficiency (T-T dimers will build up and not get cleaved like they’re supposed to)

will result in hyperpigmentation of the skin, the sun is very dangerous to these people

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25
Q

How is collagen synthesized?

A

-fibroblasts will undergo DNA replication, transcription and translation
-protein is created and undergoes post translational modification which can include cutting, hydroxylation of lysines and prolines (vit C dependent), and/or glycosylation
-then the triple helix structure forms and will be released into the ECM
-oxidiation of OH-lys enables collagen cross linking and is done with lysyl oxidase and copper
-collagen is fully formed and functional

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26
Q

What disease can occur if something goes wrong during DNA replication of fibroblasts for collagen synthesis?

A

osteogenesis imperfecta

27
Q

What 2 diseases can occur if something goes wrong during the post translational modification step during collagen synthesis, specifically hydroxylation of lysines and prolines?

A

Ehlers Danlos and Scurvy

28
Q

What disease can occur if something goes wrong during the cross-linking step of collagen synthesis?

A

menkes disease

29
Q

What is scurvy? What are the S&S?

A

-disorder related to collagen synthesis
-common in sailors, pirates, smokers
-generates oxidative stress and depletes vitamins and minerals
-issue with coenzyme
-has a deficient hydroxylation secondary to vitamin C deficiency
-need to eat fresh fruits and veggies like peppers, blueberries, raspberries

S&S:
-petechiae (red little dots on skin)
-ecchymoses (bruises)
-loose teeth and bleeding gums (most common in adults)
-poor wound healing and poor bone development (most common in children)

30
Q

What is osteogenesis imperfecta? What are its S&S?

A

-disorder of collagen synthesis
-due to mutation in collagen genes-> can be either the coding or promotor
-can lead to spontaneous abortions

S&S:
-skeletal deformities
-fractures
-blue sclera (due to bleeding blood vessels)
-body is unable to carry its weight

31
Q

What is ehlers danlos? What are its S&S?

A

-disorder of collagen synthesis
-due to mutations in collagen genes and lysine hydroxylase genes
-mutation happens during post transitional modification

S&S:
-hyper-extensible fragile skin (skin can be pulled easily)
-hypermobile joints
-dislocations
-varicose veins
-ecchymoses
-intestinal ruptures

32
Q

What is Menkes disease? What are its S&S?

A

-disorder of collagen synthesis
-due to deficient cross-linking secondary to functional copper deficiency (note: copper is involved heavily with iron, its a cofactor)

S&S:
-depigmented hair
-arterial tortuosity/ ruptures
-cerebral degeneration
-osteoporosis
-anemia

33
Q

What is sickle cell anemia? What are the signs and symptoms? How is it treated?

A

-genetic mutation causes glutamate to be swapped for a valine
-this is a misense mutation
-this causes a different protein structure

S&S:
-sickle shaped RBCs
-ability to carry oxygen is greatly reduced
-hard to workout and breathe in general
-SOB
-RBCs can crystallize into fibrous structure and this causes pain
-anemia

tx:
-blood transfusions frequently
-BM transplant
-gene therapy/modification to BM

34
Q

What is maple syrup urine disease?

A

-a deficency of branched chain alpha keto acid dehydrogenase (BCKD) leading to a buildup of the branched chain AAs- leucine, isoleucine, and valine and their toxic byproducts (ketoacids) in the blood and urine
-causes vomiting, dehydration, metabolic acidosis brain damage, mental retardation, and eventually death
-high conc. of branched chain alpha keto acids will make urine smell like rotten maple syrup
-treatment is to avoid BCAAs, aka high quality proteins (animal products)
-newborn screening is done to prevent brain damage and death (test the blood plasma for leucine)
-this is genetic when found in children, but can also be found in adults and at this point its usually associated with a high protein diet

35
Q

What is the cause of pellagra?

A

niacin (vitamin B3) or tryptophan deficiency

36
Q

Who commonly has pellagra?

A

people who obtain most of their food energy from maize, usually in rural parts of South America

37
Q

What are the 4 Ds of pellagra?

A

-diarrhea
-dermatitis
-dementia
-death

38
Q

Is pellagra easy to treat?

A

yes

39
Q

What is the treatment for pellagra?

A

-tryptophan rich foods like meat, fish, and eggs
-take nicotinamide (a type of vitamin B3)

40
Q

Wheat and rice are low in which AAs?

A

lysine and isoleucine

41
Q

Maize is low in which AAs?

A

tryptophan and lysine

42
Q

Vegetables, pulses, and legumes are low in which AAs?

A

methionine and tryptophan

43
Q

What are the 2 types of protein?

A

high quality protein
-contains all/is an abundance of all essential AAs
-animal proteins like eggs, meat, fish

low quality protein
-lacking some essential AAs
-plant based proteins

44
Q

Grains are low in which AAs?

A

lysine and isoleucine

45
Q

T/F: Peanuts are considered legumes, so a PB&J sandwich will give you all the essential AAs

A

true!

legumes are low in met and trp
grains are low in lys and ile

so together, you get the essentials you need

46
Q

Nuts are low in which AAs?

A

lysine and isoleucine

47
Q

Which AA is toxic to PKU patients?

A

phenylalanine

48
Q

Which AA is non-essential but becomes essential for PKU patients?

A

tyrosine

49
Q

What causes phenylketonuria (PKU)? What is it?

A

-genetic mutation that causes a deficiency in phenylalanine hydroxylase (PAH), which is the enzyme that converts phenylalanine to tyrosine
-phenylalanine builds up in the brain which causes mental retardation, seizures, and death
-newborn screening is done to avoid death

50
Q

What should PKU patients avoid?

A

artificial sweetener like aspartame bc it contains phe+asp

so PKU patients should avoid anything sugar free

51
Q

What is the tx for PKU?

A

low phe diet with some tyr intake

52
Q

Which AA is a precursor for thyroid hormones T3 and T4?

A

tyrosine

53
Q

Which AA is a precursor for melanin?

A

tyrosine

54
Q

Which AA is a precursor for catecholamines like dopamine, epi, and NE?

A

tyrosine

55
Q

What is kwashiorkor? What is it caused by?

A

-due to negative nitrogen balance
-pt eats lots of carbs and lipids, but none, or not enough protein
-common in developing countries
-will result in low albumin (which is a protein in blood that keeps osmotic pressure), and causes big belly because of fluid in abdominal cavity (fluid will go to all the tissues and cause edema because of lack of albumin)
-will also result in low lipoprotein which causes fatty liver

56
Q

What is marasmus?

A

-formerly known as protein calorie malnutrition
-severe energy and protein deficit
-appropriate response to restricted energy intake
-body get stripped of all of its energy reserves
-slowly starving to death
-bony appearance, little to no subcutaneous tissue
-fat and muscles disappear, which ultimately reduces brain growth

57
Q

What is Tay-Sachs disease? What is it caused by? What are the symptoms?

A

-harmful quantities of gangliosides accumulate in the brain and eventually leads to premature death of cells
-causes progressive deterioration of mental and physical abilities (usually starts at 6 months and child on average only lives till 4 y/o)
-caused by insufficient activity of hexosaminidase A (enzyme found in lysosomes that hydrolytically breaks down glycolipids)
-symptoms: loss of motor control, can no longer sit or crawl, loss of muscle strength, mental retardation, loss of sight, hearing, and even swallowing abilities
-the tell-tale sign is a “cherry red” macula in the retina
-can be diagnosed by measuring gangliosides in blood or the enzyme

58
Q

What are 2 lysosomal diseases caused by improper degradation of sphingolipids?

A

-tay-sachs disease
-niemann-pick disease

59
Q

What is Niemann-Pick disease? What is it caused by?

A

-sphingomyelin accumulates in lysosomes
-caused by sphingomyelinase mutation (loss of activity mutation, no longer breaking down sphingomyelins)
-can be fatal to toddlers depending on severity
-people with mild forms can live into teens or young adulthood
-harmful quantities of lipids accumulate in the liver, lungs, BM, spleen, and brain
-symptoms are related to where it accumulates

60
Q

What is lactose intolerance? What is it caused by? What are the symptoms

A

lactose is a disaccharide that is glucose + galactose

it is held together by a beta 1,4 o glycosidic bond

lactose intolerance is caused by low intestinal lactase levels (low enzyme levels, so the disaccharide does not get broken down as easily as it should and this causes problems because we like to absorb monomers and this is a polymer)

symptoms:
-diarrhea
-abdominal pain after ingestion of milk/milk containing products

61
Q

Which lab test is able to distinguish type 1 and 2 diabetes?

A

plasma c-peptide levels

62
Q

A patient came with hyper-extensible fragile skin and hyper-mobile joints, what joint disease would you consider?

A

ehlers- danlos

63
Q

Scurvy is a condition characterized by general weakness, anemia, bleeding gums and skin hemorrhages resulting from a lack of ascorbic acid in the diet. Ascorbic acid plays a critical role in which of the following processes in collagen synthesis?
A) hydroxylation
B) glycosylation
C) transcription
D) c- peptide cleavage

A

A) hydroxylation

Biochemistry 1 (12 decks)

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