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FA note cards > Biochem > Flashcards

Biochem Flashcards

1
Q

Vitamin A is also called

A

retinol

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2
Q

Vitamin A deficiency

A

Night blindness (nyctalopia); dry, scaly skin (xerosis cutis); corneal degeneration (keratomalacia); Bitot spots on conjunctiva; immunosuppression

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3
Q

Vitamin B1 is also called

A

thiamine

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4
Q

Vitamin B1 deficiency

A

Impaired glucose breakdown

Wernicke-Korsakoff syndrome, beriberi

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5
Q

Vitamin B1 function

A

Cofactor for dehydrogenase enzyme reactions

Think ATP: α-ketoglutarate dehydrogenase, Transketolase, and Pyruvate dehydrogenase

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6
Q

Wernicke-Korsakoff syndrome

A

Vit B1 deficiency
Confusion, ophthalmoplegia, ataxia (classic triad) + confabulation, personality change, memory loss (permanent). Damage to medial dorsal nucleus of thalamus, mammillary bodies

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7
Q

Dry beriberi

A

polyneuritis, symmetrical muscle wasting

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8
Q

Wet beriberi

A

high-output cardiac failure (dilated cardiomyopathy), edema.

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9
Q

Vitamin B2 is also called

A

riboflavin

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10
Q

B2 function

A

Component of avins FAD and FMN, used as cofactors in redox reactions
(FAD and FMN are derived from riboFlavin)

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11
Q

B2 deficiency

A

Cheilosis (in ammation of lips, scaling and ssures at the corners of the mouth), Corneal vascularization

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12
Q

Vitamin B3 is also called

A

niacin

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13
Q

B3 function

A

Constituent of NAD+, NADP+ (dehydrogenase enzymes) Derived from tryptophan. Synthesis requires vitamins B2 and B6

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14
Q

B3 deficiency

A

Pellagra: 3 D’s
Diarrhea
Dementia (also hallucinations)
Dermatitis (C3/C4 dermatome circumferential “broad collar” rash [Casal necklace], hyperpigmentation of sun- exposed limbs)

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15
Q

Hartnup disease

A

AR; Defciency of neutral amino acid (eg, tryptophan) transporters in proximal renal tubular cells and enterocytes
Decreased tryptophan for B3: pellagra-like
Treat w/ high protein diet and nicotinic acid

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16
Q

Vitamin B5 is also called

A

pantothenic acid

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17
Q

Vitamin B5 function

A

Essential component of coenzyme A (CoA, a cofactor for acyl transfers) and fatty acid synthase

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18
Q

Vitamin B5 deficiency

A

Dermatitis, enteritis, alopecia, adrenal insufficiency

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19
Q

Vitamin B6 is also called

A

pyridoxine

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20
Q

Vitamin B6 function

A

Converted to pyridoxal phosphate (PLP):
cofactor in transamination (eg, ALT and AST), decarboxylation reactions, glycogen phosphorylase
Synthesis of cystathionine, heme, niacin, histamine, and NTs: serotonin, epic, NE, dopamine, and GABA

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21
Q

Vitamin B6 deficiency

A

Convulsions, hyperirritability, peripheral neuropathy, sideroblastic anemias due to impaired hemoglobin synthesis and iron excess

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22
Q

Vitamin B7 is also called

A

biotin

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23
Q

Vitamin B7 function

A

Cofactor for carboxylation enzymes

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24
Q

Vitamin B7 deficiency

A

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

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25
Q

Vitamin B9 is also called

A

folate

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26
Q

Vitamin C deficiency

A

Scurvy—swollen gums, bruising, petechiae, hemarthrosis, anemia, poor wound healing, perifollicular and subperiosteal hemorrhages, “corkscrew” hair.
Weakened immune response.

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27
Q

Vitamin E deficiency

A

Hemolytic anemia, acanthocytosis, muscle weakness, posterior column and spinocerebellar tract demyelination

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28
Q

Result of DNA methylation, histone methylation and acetylation

A

DNA methylation: silences DNA (mute)
Histone methylation: mute
Histone acetylation: active

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29
Q

Leflunomide

A

inhibits dihydroorotate dehydrogenase (disrupts pyrimidine synthesis)

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30
Q

Adenosine deaminase deficiency

A

↑ dATP: toxic to lymphocytes

Seen in AR SCID

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31
Q

DNA polymerase III

A

Prokaryotes

5 to 3 synthesis with 3 to 5 exonuclease activity

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32
Q

DNA polymerase I

A

Excises RNA primer with 5′ to 3′ exonuclease.

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33
Q

Gene regulators located close, far or in an intron from the gene

A

Enhancers and silencers

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34
Q

α-amanitin

A

Found in mushrooms: inhibits RNA polymerase II

Severe hepatotoxicity

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35
Q

Actinomycin D

A

Inhibits RNA polymerase in both prokaryotes and eukaryotes.

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36
Q

Antibodies to spliceosomal snRNPs

A

aka anti-Smith

SLE

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37
Q

Anti-U1 RNP antibodies

A

Associated with mixed connective tissue disease

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38
Q

Site of synthesis of secretory (exported) proteins

A

RER

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39
Q

Site of steroid synthesis and detoxification of drugs and poisons

A

SER

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40
Q

Site of synthesis of cytosolic and organellar proteins

A

Free ribosome

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41
Q

I-cell disease pathology

A

Lysosomal storage disorder; defect in N-acetylglucosaminyl-1-phosphotransferase
Golgi doesnt phosphorylate mannose-6-p residues; proteins sent to EC instead of lysosome

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42
Q

I-cell disease presentation

A

Coarse facial features, clouded corneas, restricted joint movement, and high plasma levels of lysosomal enzymes

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43
Q

COPI and COPII

A

I: retrograde and cis-golgi to ER
II: anterograde
(II steps forward, I step back)

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44
Q

Zellweger syndrome

A

Peroxisome disease

hypotonia, seizures, hepatomegaly, early death

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45
Q

Refsum disease

A

Peroxisome disease

Scaly skin, ataxia, cataracts/night blindness, shortening of 4th toe, epiphyseal dysplasia

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46
Q

Type I collagen

A

bONE, skin, tendon, dentin, cornea

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47
Q

Type II collagen

A

Cartilage

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48
Q

Type III collagen

A

Reticulin

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49
Q

Type IV collagen

A

Basement membrane, basal lamina, lens

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50
Q

Osteogenesis imperfecta type I defect

A

↓ production of type I collagen

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51
Q

Alport syndrome defect

A

Defective type IV collagen

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52
Q

Defect in scurvy

A

hydroxylation of specific proline and lysine residues to make collagen

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53
Q

Defect in Ehlers-Danlos

A

cleavage of disulfide-rich terminal regions of procollagen to insoluble tropocollagen

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54
Q

Genes in osteogenesis imperfecta; most common type

A

COL1A1 and COL1A2

AR with decreased amounts of normal type I

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55
Q

Presentation of osteogenesis imperfecta

A

Fractures, blue sclera, dental changes, hearing loss

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56
Q

Genes of classic ED

A

mutation in type V collagen (COL5A1, COL5A2)

57
Q

Presentation of ED

A

hyperextensible skin, tendency to bleed (easy bruising), and hypermobile joints

58
Q

Menkes disease inheritance and cause

A

XL-R

Impaired copper absorption and transport d/t defective Menkes protein (ATP7A): ↓ activity of lysyl oxidase

59
Q

Menkes presentation

A

Brittle, “kinky” hair, growth retardation, and hypotonia

60
Q

Marfan syndrome genetics and cause

A

AD; FBN1 gene mutation on chromosome 15 → defective fibrillin (glycoprotein that forms a sheath around elastin)

61
Q

Marfan presentation

A

Tall with long extremities;
Pectus carinatum;
Hypermobile joints;
Long, tapering fingers and toes (arachnodactyly);
Cystic medial necrosis of aorta; aortic incompetence and dissecting aortic aneurysms;
Floppy mitral valve
Subluxation of lenses; upward and temporally

62
Q

McCune-Albright syndrome

A

Mutation of G-protein signaling
Unilateral café-au-lait spots with ragged edges, polyostotic brous dysplasia, and at least one endocrinopathy
Survivable only if mosaicism is present

63
Q

Locus heterogeneity

A

Mutations at different loci can produce a similar phenotype

64
Q

Allelic heterogeneity

A

Different mutations in the same locus produce the same phenotype

65
Q

Heteroplasmy

A

Normal and mutated mtDNA, resulting in variable expression in mitochondrially inherited disease

66
Q

Genetics of CF

A

AR; CFTR gene on chromosome 7

Deletion of Phe508

67
Q

Newborn screen for CF

A

↑ immunoreactive trypsinogen

68
Q

Complications of CF

A

Pulmonary infections, pancreatic insufficiency, fat malabsorption, biliary cirrhosis, liver dz, nasal polyps, clubbing of nails
Meconium ileus in newborns
Infertiblity in men (no vas deferens)

69
Q

ECF changes in CF

A

Analagous to a loop diuretic

Loss of Na/H20 and renal K/H wasting

70
Q

Duchenne muscular dystrophy

A

XL d/t frameshift
Weakness begins in pelvic girdle muscles and progresses superiorly.
Pseudohypertrophy of calf muscles

71
Q

Becker muscular dystrophy

A

XL d/t non-frameshift deletion

72
Q

Myotonic type I muscular dystrophy

A

AD; CTG expansion in DMPK gene

  • Abnormal expression of myotonin protein kinase
  • Myotonia, muscle wasting, cataracts, testicular atrophy, frontal balding, arrhythmia
73
Q

Fragile X

A

XL-D; CGG expansion in FMR (leads to hypermethylation)

-Post-pubertal macroorchidism, long face with large jaw, large everted ears, autism, MVP

74
Q

Cri-du-chat syndrome

A

Congenital microdeletion of short arm of chromosome 5
-Microcephaly, moderate to severe intellectual disability, high-pitched crying/ meowing, epicanthal folds, cardiac abnormalities (VSD)

75
Q

Williams syndrome

A

Congenital microdeletion of long arm of chromosome 7 (elastin gene)
“elfin” facies, intellectual disability, hypercalcemia, friendly, CV problems

76
Q

DiGeorge syndrome

A

22q11 deletion

thymic, parathyroid, and cardiac defects

77
Q

Velocardiofacial syndrome

A

22q11 deletion

palate, facial, and cardiac defects

78
Q

Zinc deficiency

A

Delayed wound healing, hypogonadism, ↓ adult hair

79
Q

Kwashiorkor

A

Protein malnutrition resulting in skin lesions, edema, liver malfunction, anemia

80
Q

Marasmus

A

Malnutrition not causing edema

Deficient in calories

81
Q

Fomepizole

A

inhibits alcohol dehydrogenase and is an antidote For Overdoses of Methanol or Ethylene glycol

82
Q

Effects of EtOH metabolism

A

↑ NADH/NAD
Pyruvate → lactate (lactic acidosis)
Oxaloacetate → malate (prevents gluconeogenesis fasting hypoglycemia)
Dihydroxyacetone phosphate → glycerol- 3-phosphate (combines with fatty acids to
make triglycerides hepatosteatosis)

83
Q

Essential fructosuria

A

AR; defect in fructokinase

Fructose appears in blood and urine; benign and asymptomatic

84
Q

Fructose intolerance cause

A

AR; deficiency of aldolase B

Fructose-1-phosphate accumulates: decreased phosphate: inhibition of glycogenolysis and gluconeogenesis

85
Q

Fructose intolerance presentation

A

Following consumption of fruit, juice, or honey

Hypoglycemia, jaundice, cirrhosis, vomiting

86
Q

Galactokinase deficiency inheritance and presentation

A

AR; Galactitol accumulates if galactose is in diet
Mild: galactose in blood and urine; infantile cataracts
Failure to track objects or to develop a social smile

87
Q

Classic galactosemia

A

AR; Absence of galactose-1-phosphate uridyltransferase
Failure to thrive, jaundice, hepatomegaly, infantile cataracts, intellectual disability
Predisposition to E. coli
Exclude galactose and lactose from diet

88
Q

Aldose reductase

A

Converts glucose to sorbitol
Can become trapped in cell if sorbitol dehydrogenase is deficient
Cataracts, retinopathy, and peripheral neuropathy in DM

89
Q

Types of cells with only aldose reductase

A

Lens, Retina, Kidney and Schwann cells

90
Q

Glucogenic amino acids

A

I met his valentine, she is so sweet

Methionine (Met), histidine (His), valine (Val)

91
Q

Glucogenic/ketogenic amino acids

A

isoleucine (Ile), phenylalanine (Phe), threonine (Thr), tryptophan (Trp).

92
Q

Ketogenic amino acids

A

leucine (Leu), lysine (Lys)

93
Q

Hyperammonemia

A

Excess NH3 depletes α-ketoglutarate: inhibits TCA cycle

Limit protein

94
Q

Ornithine transcarbamylase deficiency

A

XL-r urea cycle disorder

Excess carbamoyl phosphate is converted to orotic acid

95
Q

Phenylketonuria cause and dz process

A

AR; ↓ phenylalanine hydroxylase or BH4 (cofactor)
Tyrosine becomes essential
↑ phenylalanine: excess phenyl ketones in urine

96
Q

Phenylketonuria presentation

A

Aromatic aa: musty body oder

Intellectual disability, growth retardation, seizures, fair skin, eczema

97
Q

Maternal PKU

A

microcephaly, intellectual disability, growth retardation, congenital heart defects

98
Q

Maple syrup urine disease cause and dz process

A

AR; Blocked degradation of branched amino acids (L, I, V)

↓ branched-chain α-ketoacid dehydrogenase

99
Q

Maple syrup urine disease presentation

A

Vomiting, poor feeding, urine
smells like maple syrup/burnt sugar
Severe CNS defects, intellectual disability, and death

100
Q

Alkaptonuria

A

AR; Congenital deficiency of homogentisate oxidase in degradative pathway of tyrosine to fumarate; homogentisic acid forms pigment in tissues

  • bluish-black connective tissue, ear cartilage, and sclerae
  • urine turns black
  • debilitating arthralgias
101
Q

Homocystinuria

A

↑ Homocysteine in urine, Osteoporosis, Marfanoid habitus, Ocular changes (downward and inward lens subluxation), CV effects, kyphosis, intellectual disability

102
Q

Cystinuria

A

AR; defect of renal PCT and intestinal aa transporter: prevents reabsorption of Cystine, Ornithine, Lysine, and Arginine (COLA)
Excess cystine in the urine can lead to recurrent precipitation of hexagonal cystine stone

103
Q

Von Gierke disease (type I)

A

Glucose-6-phosphatase deficiency
Severe fasting hypoglycemia; ↑↑ glycogen in liver, ↑ blood lactate, triglycerides, uric acid
Hepatomegaly

104
Q

Pompe disease (type II)

A

Lysosomal acid α-1,4- glucosidase with α-1,6- glucosidase deficiency
Cardiomegaly, hypertrophic cardiomyopathy, hypotonia, exercise intolerance: early death

105
Q

Cori disease (type III)

A 
Debranching enzyme (α-1,6 -glucosidase) deficiency
Milder form of von Gierke: normal blood lactate
Accumulation of limit dextrin–like structures in cytosol
106
Q

McArdle disease (type V)

A

Skeletal muscle glycogen phosphorylase deficiency

↑ glycogen in muscle; cannot break it down: Muscle cramps, Myoglobinuria (red urine)

107
Q

Tay-Sachs disease

A

AR; HeXosaminidase A deficiency: GM2 ganglioside buildup
Progressive neurodegeneration, developmental delay, “cherry-red” spot on macula, lysosomes with onion skin, NO hepatosplenomegaly

108
Q

Fabry disease

A

XR; α-galactosidase A deficiency: ceramid trihexoside buildup
Early: Triad of episodic peripheral neuropathy, angiokeratomas
Late: progressive renal failure, cardiovascular disease

109
Q

Metachromatic leukodystrophy

A

AR; Arylsulfatase A deficiency: Cerebroside sulfate build up

Central and peripheral demyelination with ataxia, dementia

110
Q

Krabbe disease

A

AR; Galactocerebrosidase deficiency: Galactocerebroside, psychosine build up
Peripheral neuropathy, destruction of oligodendrocytes, developmental delay, optic atrophy, globoid cells

111
Q

Gaucher disease

A

AR; Glucocerebrosidase deficiency

Hepatosplenomegaly, pancytopenia, osteoporosis, avascular necrosis of femur, bone crises, Gaucher cells

112
Q

Niemann-Pick disease

A

AR; Sphingomyelinase deficiency

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

113
Q

Hurler syndrome

A

AR; α-l-iduronidase deficiency: Heparan sulfate and dermatan sulfate build up
Developmental delay, gargoylism, airway obstruction, corneal clouding, hepatosplenomegaly

114
Q

Hunter syndrome

A

XR; Iduronate sulfatase, heparin and dermatan sulfate buildup
Mild Hurler + aggressive behavior, no corneal clouding

115
Q

Alternative to Niacin in NAD synthesis?

A

Tryptophan

116
Q

What does the dermatitis of pellagra look like?

A

Rough, thick, scaly

Worse with sun exposure

117
Q

Where is K excreted in the kidney?

A

collecting duct

118
Q

Fungus that forms budding yeast with germ tubes

A

Candida

119
Q

SE of theophylline OD

A

N/V, abd pain, diarrhea, cardiac arrhythmia, SZ

120
Q

Glycogen in lysosomes in indicative of

A

Pompe disease (defect in alpha glucosidase aka acid maltase)

121
Q

What molecule has the same precursor as beta endorphins?

A

ACTH

122
Q

What does degradation of LCFAs require?

A

Carnitine-dependent transport into the mitochondrial matrix

123
Q

What does fatty acid synthesis require?

A

Transport of citrate from mitochondria to cytosol

124
Q

Systemic 1° carnitine deficiency

A

LCFAs cannot be transported into mitochondria: toxic accumulation
Weakness, hypotonia, and hypoketotic hypoglycemia

125
Q

Medium-chain acyl-CoA dehydrogenase deficiency

A

↓ breakdown of FA into acetyl CoA; accumulation of FA carnitines in blood → hypoketotic hypoglycemia
Vomiting, lethargy, seizures, coma, liver dysfunction

126
Q

What causes buildup of ketone bodies?

A

Fasting/DM: oxaloacetate is depleted for gluconeogenesis
EtOH: excess NADH shunts oxaloacetate to malate.
Both lead to build up of acetyl-CoA, which shunts glucose and FFA toward production of ketone bodies

127
Q

Maintenance of blood glucose in 1-3 days of starvation

A
  • Hepatic glycogenolysis
  • Adipose release of FFA
  • Muscle and liver shift to FFA
  • Hepatic gluconeogenesis
128
Q

Maintenance of blood glucose in >3days of starvation

A

Adipose stores: ketone primary energy source

Last: vital protein degradation

129
Q

What degrades dietary triglycerides and where?

A

Pancreatic lipase

In the small intestine

130
Q

What degrades TGs circulating in chylomicrons and VLDLs?

A

LPL

131
Q

What degrades TGs remaining in IDL?

A

Hepatic TG lipase (HL)

132
Q

What degrades TGs stored in adipocytes?

A

Hormone-sensitive lipase

133
Q

Abetalipoproteinemia cause

A

AR; Chylomicrons, VLDL, LDL absent

Deficiency in ApoB48, ApoB100

134
Q

Abetalipoproteinemia presentation

A

Infant: severe fat malabsorption, steatorrhea, failure to thrive
Adult: retinitis pigmentosa, spinocerebellar degeneration due to vitamin E deficiency, progressive ataxia, acanthocytosis

135
Q

Treatment for abetalipoproteinemia

A

Restriction of long-chain fatty acids, large doses of oral vitamin E

136
Q

Hyperchylomicronemia (I)

A

AR; Lipoprotein lipase or apolipoprotein C-II
deficiency
↑ Chylomicrons, TG, cholesterol
Pancreatitis, hepatosplenomegaly, and eruptive/pruritic xanthomas, creamy supernatant

137
Q

Familial hyper- cholesterolemia (II)

A

AD; Absent or defective LDL receptors

Accelerated atherosclerosis, tendon (Achilles) xanthomas, and corneal arcus

138
Q

Dysbeta-lipoproteinemia (III)

A

AR; Defective ApoE
↑ Chylomicrons, VLDL
Premature atherosclerosis, tuberoeruptive xanthomas, xanthoma striatum palmare

139
Q

Hyper-triglyceridemia (IV)

A

AD; Hepatic overproduction of VLDL
↑ VLDL, TG
Hypertriglyceridemia; acute pancreatitis

FA note cards (16 decks)

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