Brainscape's Knowledge GenomeTM

Browse over 1 million classes created by top students, professors, publishers, and experts.


See full index

Focused Memorization > Biochemistry > Flashcards

Biochemistry Flashcards

1
Q

Functions of B1 (thiamine)

A

Cofactor for…

  1. Pyruvate dehydrogenase (links glycolysis to TCA cycle)
  2. alpha-ketoglutarate dehydrogenase (TCA cycle)
  3. Transketolase (HMP shunt)
  4. Branched chain ketoacid dehydrogenase
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
2
Q

Vitamin B1 (thiamine) deficiency (and diagnosis)

A

Impaired glucose breakdown, leading to ATP deletion
Worsened by glucose infusion (ALWAYS give thiamine infusion with glucose in someone you suspect with a deficiency)

Diagnosis made by an increase in RBC transketolase activity following B1 administration

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
3
Q

Functions of Vitamin B2 (riboflavin)

A

Component of flavins FAD and FMN, used as cofactors in redox reactions (ie, succinate dehydrogenase reaction in TCA cycle)

FAD and FMN are derived from riboFlavin (B2 = 2 ATP)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
4
Q

Vitamin B2 (riboflavin)

A

Cheilosis (inflammation of lips, scaling and fissures at corner of mouth)
Corneal vascularization

(the 2 Cs of B2)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
5
Q

Functions of Vitamin B3 (niacin)

A

Constituent of NAD+ and NADP+ (used inredox rxns).
Derived from tryptophan.
Synthesis requires B2 and B6

NAD derived from Niacin (B3 = 3ATP)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
6
Q

Vitamin B3 deficiency

A

Glossitis

Three Ds:
Diarrhea, Dementia, Dermatitis (broad collar rash)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
7
Q

Function of Vitamin B5

A

Essential component of coenzyme A (a cofactor for acyl transfers) and fatty acid synthesis

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
8
Q

Vitamin B5 deficiency

A

Dermatitis, eneritis, alopecia, adrenal insufficiency

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
9
Q

Functions of B6 (pyridoxine)

A

Converted to pyridoxal phosphate (PLP), a cofactor used in transamination, decarboxylation reactions, glycogen phosporylase

Synthesis of cystathionine, HEME, NIACIN, histamine and neurotransmitters including serotonin, epinephrine, norepi, dopamine and GABA

Homocysteine to Cysteine
Succinyl-CoA to Heme

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
10
Q

Vitamin B6 deficiency

A

Convulsions, hyper-irritability, peripheral neuropathy, sideroblastic anemias due to impaired hemoglobin synthesis

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
11
Q

Functions of Vitamin B7 (biotin)

A

Cofactor for carboxylation enzymes:

Pyruvate carboxylase: pyruvate to oxaloacetate

Acetyl-CoA carboxylase: aceyle Co-A to malonyl CoA

Propionyl CoA carboxylase: propionyl CoA to methylmalonyl CoA

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
12
Q

Vitamin B7 (biotin) deficiency

A

Relatively rare. Dermatitis, alopecia, enteritis. Caused by antibiotic use or excessive ingestion of raw egg whites

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
13
Q

Functions of B9 (folate) deficiency

A

Converted to tetrahydrofolic acid (THF), a coenzyme for 1-carbon transfer/methylation reactions

Important for the synthesis of nitrogenous bases in DNA and RNA

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
14
Q

Vitamin B9 (folate) deficiency

A

Small reserve pool stored primarily in the liver

Macrocytic, megaloblastic anemia; hypersegmented polymorphonuclear cells; glossitis; NO neuro symptoms

Can be caused by several drugs (phenytoin, sulfonamides, methotrexate)

Most common vitamin deficiency in the US. Seen in alcoholism and pregnancy

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
15
Q

Labs to diagnos Vit. B9 (folate) deficiency

A

Increased homocysteine

Normal methylmalonic acid

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
16
Q

Functions of Vitamin B12

A

Cofactor for methionine synthase and methylmalonyl-CoA mutase

Homocysteine to Methionine
Methylmalonyl-CoA to Succinyl-CoA

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
17
Q

Vitamin B12 deficiency

A

Macrocytic, megaloblastic anemia
Hypersegmented PMNs
Parasthesias and subacute combined degeneration (degeneration of dorsal columns, lateral corticospinal tracts, and spinalcerebellar tracts)

Found in animal products. Synthesized only by microorganisms. Very large reserve pool

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
18
Q

Labs to diagnose Vitamin B12 deficiency

A

Increased serum homocysteine AND increased methylmalonic acid

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
19
Q

What does the drug Fomepizole inhibit?

A

It inhibits Alcohol dehydrogenase

Prevents Ethonal&raquo_space;> Acetaldehyde

Antidote for methanol or ethylene glycol poisoning

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
20
Q

What does the drug Disulfiram inhibit?

A

It inhibits Acetaldehyde dehydrogenase

Prevents Acetldehyde&raquo_space; Acetate

Drug for alcohol abstinence, contributes to hangover symptoms

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
21
Q

Ethanol metabolism increases the ____/_____ ratio in the liver, causing…

A

Increases the NADH/NAD+ ratio, causing…

  1. Pyruvate&raquo_space; Lactate
  2. Oxaloacetate&raquo_space; Malate (prevents gluconeogenesis and causing fasting hypoglycemia)
  3. Dihydroxyacetone phosphate&raquo_space; glycerol-3-phosphate (combines with fatty acids to make triglycerides, causing hepatosteatosis)
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
22
Q

What is the rate determining enzyme in Glycolysis?

Regulators of that step?

A

Phosphofructokinase-1 (Fructose 6-P&raquo_space; Fructose 1,6-BP)

Down-regulated by: ATP and Citrate (TCA)
Up-regulated by AMP and Fructose-2,6-bisphosphate

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
23
Q

What is the rate determining enzyme in Gluconeogenesis?

Regulators of that step?

A

Fructose 1,6-bisphosphatase (Fructose 1,6-BP to Fructose 6-BP)

Down-regulated by AMP and fructose-2,6-bisphosphate

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
24
Q

What is the rate determining enzyme in the TCA cycle?

Regulators of that step?

A

Isocitrate dehydrogenase (Isocitrate&raquo_space; alpha-Ketoglutarate)

Down-regulated by: ATP, NADH
Up-regulated by: ADP

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
25
Q

What is the rate determining enzyme in Glycogenesis?

Regulators of that step?

A

Glycogen synthase

Down-regulated by: Epinephrine, Glucagon
Up-regulated by: Glucose-6-phosphate, insulin, cortisol

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
26
Q

What is the rate determining step in HMP shunt?

Regulators of that step?

A

Glucose-6-phosphate dehydrogenase (G6PD)
(Glucose-6-phosphate&raquo_space; 6-phosphogluconolactone)

Down-regulated by: NADPH
Up-regulated by: NADP+

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
27
Q

What is the rate determining step in De Novo Pyrimidine synthesis?
Regulators of that step?

A

Carbomoyl phosphate synthetase II
(Glutamine + CO2&raquo_space; Orotic acid)

Down-regulated by: UTP
Up-regulated by: ATP

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
28
Q

What is the rate determining step in De Novo Purine synthesis?
Regulators of that step?

A

Glutamine-phosphoriboslpyrophosphate
(PRPP&raquo_space; IMP)

Down-regulated by: AMP, inosine monophosphate (IMP), and GMP

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
29
Q

What is the rate determining step of the Urea Cycle?

Regulators of that step?

A

Carbomoyl phosphate synthetase I
(CO2 + NH3&raquo_space; Carbamoyl phosphate)

Up-regulated by: N-acetylglutamate

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
30
Q

What is the rate determining step of Fatty Acid synthesis?

Regulators of that step?

A

Acetyl-CoA carboxylase
(Acetyl-CoA&raquo_space; Malonyl-CoA)

Down-regulated by: Glucagon, palmitoyl-CoA
Up-regulated by: Insulin, Citrate

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
31
Q

What is the rate determining step of Fatty Acid oxidation?

Regulators of that step?

A

Carnitine acyltransferase I

Down-regulated by Malonyl-CoA

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
32
Q

What is the rate-determining step in Ketogenesis?

A

HMG-CoA synthase

(

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
33
Q

What is the rate-determining step in Cholesterol synthesis?

Regulators of that step?

A

HMG-CoA reductase
(HMG CoA&raquo_space; Mevalonate)

Down-regulated by: Glucagon, cholesterol
Up-regulated by Insulin, thyroxine

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
34
Q

The four fates of Pyruvate

A
  1. Alanine via Alanine aminotransferase (B6 cofactor)
  2. Oxaloacetate via Pyruvate carboxylase
  3. Acetyl-CoA via Pyruvate dehydrogenase (B1, B2, B3, B5, lipoic acid cofactors)
  4. Lactate via Lactic acid dehydrogenase (B3 cofactor)
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
35
Q

Function of HMP shunt

A

Provides a source of NADPH from abundantly available glucose-6-P

Makes ribose for nucleotide synthesis and glycolytic intermediates

In lactating mammary glands, liver, adrenal cortex and RBCs

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
36
Q

Essential fructosuria

A

Defect in fructokinase
(Fructose&raquo_space; Fructose 1-P)

Autosomal recessive
Fructose appears in blood and urine. Benign condition.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
37
Q

Fructose intolerance

A

Autosomal recessive

Defect in aldolase B
Fructose 1-P accumulates, inhibition of glycogenolysis and gluconeogenesis

Hypoglycemia, jaundice, cirrhosis, vomiting. After eating fruit, juice or honey.

Tx: decrease intake of both fructose and sucrose

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
38
Q

Galactokinase deficiency

A

Autosomal recessive

Galactitol accumulates if galactose is present in diet

Galactose appears in blood and urine. Infantile cataracts. Failure to track objects or to develop a social smile

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
39
Q

Classic galactosemia

A

Autosomal recessive

Absence of galactose-1-phosphate uridyltransferase.

Galactitol accumulates in lens of eye. Other toxic substances accumulate as well

Sx: Failure to thrive, jaundice, hepatomegaly, infantile cataracts, intellectual disability. E.coli sepsis in neonates

Tx: exclude galactose and lactose

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
40
Q

What is Sorbitol?

A

Glucose trapped in its alcohol component (via aldose reductase)

Some tissues then convert sorbitol to fructose using sorbitol dehydrogenase. Without this enzyme, sorbitol can accumulate, causing osmotic damage (cataracts, retinopathy, peripheral neuropathy seen with chronic hyperglycemia in diabetes)

41
Q

Lactase deficiency

A

Insufficient lactase enzyme, leading to dietary lactose in tolerance.

Lactase function on the brush border

Biopsy normal. Stool demonstrates low pH and breath shows high hydrogen content

42
Q

What are the essential amino acids?

A

Glucogenic: Methionine, Valine, Histidine

Glucogenic/ketogenic: Isoleucine, Phenylalanine, Threonine, Tryptophan

Ketogenic: Leucine, Lysine

43
Q

What are the Acidic amino acids?

A

Aspartic acid

Glutamic acid

44
Q

What are the Basic amino acids?

A

Histidine
Arginine
Lysine

45
Q

Hyperammonemia

A

Aquired (liver disease)
Hereditary (urea cycle enzyme deficiencies)

Results in excess NH4+, which depletes alpha-ketoglutarate, leading to inhibition of TCA

46
Q

Treatment of Hyperammonemia

A

Limit protein diet
Lactulose to acidify GI tract to trap NH4+
Rifaximin to lower colonic ammoniagenic bacteria
Benzoate or phenylbutyrate to bind amino acid and lead to excretion

47
Q

N-aceylglutamate synthase deficiency

A

Leads to hyperammonemia

Required cofactor to carbomoyl phosphate synthase I

Presents in neonates as poorly regulated respiration and body temp, poor feeding, developmental delay, intellectual disability

48
Q

Ornithine transcarbamylase deficiency

A

Most common urea cycle disorder

X-linked recessive

Interferes with the body’s ability to eliminate ammonia

Excess carbomoyl phosphate is converted to orotic acid

Findings: Increase in orotic acid in blood and urine, Decrease in BUN, Symptoms of hyperammonemia. NO megaloblastic anemia (vs orotic aciduria)

49
Q

Phenylketonuria

A

Due to low phenylalanine hydroxylase or low tetrahydrobiopterin cofactor.

Tyrosine becomes essential

Itellectual disability, growth retardation, seizures, fair skin, eczema, musty body odor

Tx: Low phenylalanine and high tyrosine diet

50
Q

Maple syrup urine disease

A

Autosomal recessive

Blocked degradation of branched amino acids (isoleucine, leucine, valine) due to low alpha-ketoacid dehydrogenase (B1)

Causes increased alpha-ketoacids in blood

Causes severe CNS defects, intellectual disability, death

Tx: restrict isoleucine, leucine and valine in diet. Increase thiamin supplimentation

51
Q

Alkaptonuria (ochronosis)

A

Congenital deficiency of homogentisate oxidase in the degradative pathway of tyrosine to fumarate

Homogentisic acid accumulates in tissue

Dark connective tissue, brown sclera, urine turns black when prolonged exposure to air

52
Q

Homocystinuria

A

Many types, all autosomal recessive

All forms result in excess homocysteine

Increased homocysteine in urine, intellectual disability, osteoporosis, marfanoid habitus, kyphosis, lens subluxation, thrombosis (major cause of death!!), atherosclerosis

Tx: Supplement with PYRIDOXINE (vit B6). Also restrict methionine

Look at pathway

53
Q

Cystinuria

A

Autosomal recessive. Common

Hereditary defect in renal and intestinal amino acid transporter that prevents reabsorption of Cysteine, Ornithine, Lysine and Arginine (COLA)

Excess cystine can lead to stones

Tx by alkalizing the urine

54
Q

What are the four types of Glycogen storage diseases you need to know?

A

All are autosomal recessive. All result in abnormal glycogen metabolism and an accumulation of glycogen within cells

Type I: Von Gierke

Type II: Pompe

Type III: Cori

Type V: McArdle

55
Q

Von Gierke disease:

Findings, deficient enzyme

A

Deficient in Glucose-6-phosphate

Severe fasting hyperglycemia, Increase glycogen in liver, Increase blood lactate, Increase triglycerides, Increase uric acid, hepatomegaly

Tx: Frequent oral glucose/cornstarch, avoid fructose and galactose

56
Q

Pompe disease:

Findings, deficient enzyme

A

Deficient in Lysosomal alpha-1,4-glucosidase (Acid alpha-glucosidase)

Cardiomegaly, hypertrophic cardiomyopathy, exercise intolerance and systemic findings leading to early death

“Pompe trashes the Pumps” (hearth, liver, muscle)

57
Q

Cori disease:

Findings, deficient enzyme

A

Deficient in Debranching enzyme

Milder form of Von Gierke (type 1) with normal blood lactate levels

Gluconeogenesis is intact

58
Q

McArdle disease:

Findings, deficient enzyme

A

Deficient of Skeletal muscle glycogen phophorylase

Increase glycogen in muscle, but muslce cannot break it down

Painful muscle cramps, red urine with strenuous exercise, arrhythmia from electrolyte abnormalities

59
Q

Fabry disease: Findings and inheritance

A

XR

Findings: Peripheral neuropathy of hands/feet. Angiokeratomas, Cardiovascular/Renal disease

60
Q

Fabry disease: Deficient enzyme and Accumulated substrate

A

Deficiency: Alpha-galactosidase A

Accumulation: Ceramide trihexoside

61
Q

Gaucher Disease: Findings and inheritance

A

AR; Most common

Findings: Hepatosplenomegaly, pancytopenia, osteroporosis, aseptic necrosis of femur, bone crisis, Gaucher cells (macrophages with “crumpled tissue” look)

Tx: Recombinant glucocerebrosidase

62
Q

Gaucher Disease: Deficient enzyme and Accumulated substrate

A

Deficiency: Glucocerebroside (beta-glucosidase)

Accumulation: Glucocerebroside

63
Q

Niemann-Pick Disease: Findings and inheritance

A

AR

Findings: Progressive neurodegeneration, hepatosplenomegaly, foam cells, “cherry-red” spot on macula

64
Q

Neimann-Pick Disease: Deficient enzyme and Accumulated substrate

A

Deficiency: Sphingomyelinase

Accumulation: Sphingomyelin

65
Q

Tay-Sachs Disease: Findings and inheritance

A

AR

Findings: Progressive neurodegeneration, developmental delay, “cherry red” spot on macula, lysosomes with onion skin, NO hepatosplenomegaly

66
Q

Tay-Sachs Disease: Deficient enzyme and Accumulated substrate

A

Deficiency: Hexosaminidase A

Accumulation: GM2 ganglioside

67
Q

Krabbe Disease: Findings and inheritance

A

AR

Findings: Peripheral neuropathy, developmental delay, optic atrophy, globoid cells

68
Q

Krabbe Disease: Deficient enzyme and Accumulated substrate

A

Deficiency: GalactocerebrosidASE

Accumulation: GalactocerebroSIDE

69
Q

Metachromatic Leukodystrophy: Findings and inheritance

A

AR

Findings: Central and peripheral demyelination with ataxia, dementia

70
Q

Metachromatic Leukodystrophy: Deficient enzyme and Accumulated substrate

A

Deficiency: Arylsulfatase A

Accumulation: Cerebroside sulfate

71
Q

Hurler Syndrome: Findings and inheritance

A

AR

Findings: Developmental delay, gargoylism, airway obstruction, CORNEAL CLOUDING, hepatosplenomegaly

72
Q

Hurler Syndrome: Deficient enzyme and Accumulated substrate

A

Deficiency: alpha-L-iduronidase

Accumulation: Heparane sulfate, Dermatan sulfate

73
Q

Hunter Syndrome: Findings and inheritance

A

XR

Findings: Mild Hurler + aggressive behavior. NO corneal clouding

74
Q

Hunter Syndrome: Deficient enzyme and Accumulated substrate

A

Deficiency: Iduronate sulfatase

Accumulation: Heparan sulfate, dermatan sulfate

75
Q

Medium-chain acyl-CoA dehydrogenase deficiency

A

AR disorder of fatty acid oxidation

Decreased ability to break down fatty acids into acetyl-CoA. Accumulation of 8-to-10 carbon fatty acyl carnitines in the blood and HYPOglycemia.

May present in infancy or early childhood with vomiting, lethargy, seizures, coma, and liver dysfunction

Minor illness can lead to sudden death. Avoid fasting!

76
Q

Pyruvate dehydroginase deficiency

A

Congenital or aquired

Alcoholics b/c low B1

Sx: Neuro defects, lactic acidosis, Increase in serum alanine in infancy (if pyruvate cannot be converted to acetyl CoA, then it will go the lactic acid cycle

Tx: Diet high in leucine and lysine (these can bypass the pyruvate dehydrogenase)

77
Q

Lead poisoning: Affected enzyme and accumulated substrate

A

Affected: Ferrochelatase and ALA dehydratase (blood)

Accumulated: Protoporphyrin, ∂-ALA

78
Q

Acute Intermittent Porphyria: Affected enzyme and accumulated substrate

A

Affected: Porphobilinogen deaminase

Accumulated: Porphobilinogen, ∂-ALA, Coporphobilinogen (urine)

Treat with glucose and heme, which inhibit ALA synthase

79
Q

Symptoms of Acute Intermittent Porphyria (5P’s)

A 
Painful abdomen
Port-wine-colored urine
Polyneuropathy 
Psychological disturbances
Precipitated by drugs (cytochrome P450 inducers), alcohol, starvation
80
Q

Porphyria Cutanea Tarda: Affected enzyme and accumulated substate

A

Affected: Uroporphyrinogen decarboxylase

Accumulated: Uroporphyrin (tea-colored urine)

81
Q

Sumptoms of Porphyria Cutanea Tarda

A

Blistering cutaneous photosensitivity. Most common porphyria

82
Q

Branched-chain alpha-ketoacid dehydrogenase, Pyruvate dehydrogenase and alpha-ketoglutarate dehydrogenase all require 5 cofactors. What are they?

A 
Thiamine pyrophosphate
Lipoate
Coenzyme A
FAD
NAD

(Tender Loving Care For Nancy)

83
Q

Signaling pathway of insulin

A

Tyrosine kinase signaling

Increase the synthesis of glycogen, proteins, fatty acids, and nucleic acids

Stimulation promotes glycogen synthesis by activating protein phosphatase, an enzyme that dephosphorylates (activates) glycogen synthase

84
Q

What process is responsible for the vast majority of renal acid excretion in chronic acidotic states?

A

Acidosis stimulates renal ammoniagenesis, a process by which renal tubular epithelial cells metabolize glutamine to glutamate, generating ammonium that is excreted in the urine and bicarbonate that is absorbed in the blood

85
Q

Primary carnitine deficiency; symptoms

A

Muscle weakness
Cardiomyopathy
Hypoketotic hypoglycemia
Elevated muscle triglycerides

Deficiency impairs fatty acid transport from the cytoplasm into the mitochondria, preventing B-oxidation of fatty acids into acetyl CoA. This leads to cardiac and skeletal myocyte injury (lack of ATP from citric acid cycle) and impaired ketone body production by the liver during fasting periods

86
Q

Primary carnitine deficiency; MOA

A

x

87
Q

Wet Beriberi

A

CARDIAC INVOLVEMENT

Symmetrical peripheral neuropathy of the distal extremities, with resulting sensory and motor impairments

88
Q

Dry Beriberi

A

Symmetrical peripheral neuropathy of the distal extremities, with resulting sensory and motor impairment

NO cardiac involvement

89
Q

Use of glycerol in gluconeogenesis

A

Glycerol produced by the degradation of triglycerides in adipose tissue can be used by glycerol kinase in the liver and kidney to synthesize glucose during gluconeogenesis

90
Q

What do fibrates inhibit? What consequence can this have?

A

Fibrates inhibit cholesterol 7alpha-hydroxylase

7alpha-hydroxylase catalyzes the rate-limited step in the synthesis of bile acids. Reduced bile acid results in decreased cholesterol solubility in bile and favors the formation of cholesterol gallstones

91
Q

Metabolism of 1g of protein produces how many calories?

A

4 calories

92
Q

Metabolism of 1g of Carbs produces how many calories?

A

4 calories

93
Q

Metabolism of 1 gram of fat produces how many calories?

A

9 calories

94
Q

Familial chylomicronemia (type I)

A

Defect in Lipoprotein lipase and ApoC-2

Elevated Chylomicrons

Can cause ACUTE PANCREATITIS, Lipemia retinalis, and eruptive xanthomas

95
Q

Familial hypercholesterolemia (Type IIA)

A

Defect in LDL receptor and ApoB-100

Elevated LDL

Can cause PREMATURE ATHEROSCLEROSIS, tendon xanthomas and Xanthelasmas

96
Q

Familial dysbetalipoproteinemia (Type III)

A

Defect in ApoE

Elevated Chylomicron and VLDL remnants

Can casue PREMATURE ATHEROSCLEROSIS, Tuboeruptive and palmar xanthomas

97
Q

Familial hypertriglyceridemia (Type IV)

A

Defect is polygenic

Elevated VLDLs

Associated with coronary disease, pancreatitis and diabetes

98
Q

Orotic Aciduria

A

AR

Disorder of de novo pyrimidine synthesis. Defect in uridine 5’-monophosphate (UMP) synthase.

Presents in children. Physical and mental retardation, MEGALOBLASTIC ANEMIA, and large amounts of urinary orotic acid

Tx: Uridine supplementation (uridine is converted to UMP via nucleotide kinases)

99
Q

Myoglobin. Yeah, what is it exactly?

A

Well, its a monomeric protein. Its the primary oxygen-storing protein in skeletal and cardiac muscle tissue

Only found in bloodstream after muscle injury

Since its only a single heme group, it doesn’t have heme-heme interactions, making the oxygen-dissociation curve hyperbolic (mega-left-shift)

Focused Memorization (5 decks)

Brainscape helps you reach your goals faster, through stronger study habits.
© 2024 Bold Learning Solutions. Terms and Conditions