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Anything under the sun > Biochemistry > Flashcards

Biochemistry Flashcards

1
Q

Rate-limiting enzyme in bile acid formation?

A

cholesterol 7-alpha hydroxylase

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2
Q

2nd MC cause of enzyme deficiency-related hemolytic anemia

A

pyruvate kinase deficiency

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3
Q

progressive neurological disorder that is a result of mutations in the PDH complex

A

Leigh syndrome (subacute necrotizing encephalopathy)

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4
Q

Basic amino acids

A

Histidine
Lysine
Arginine

  • Ornithine
  • Citrulline

*not incorporated into cellular proteins bcoz there are no codons for these amino acids

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5
Q

an encephalopathy-psychosis syndrome due to thiamine deficiency

A

Wernicke-Korsakoff

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6
Q

MC biochemical cause of congenital lactic acidosis?

A

pyruvate dehydrogenase deficiency

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7
Q

Rate limiting step of glycolysis?

A

fructose 6 phosphate to fructose 1,6 bisphosphate

enzyme: phosphofructokinase (PFK 1)

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8
Q

drug that inhibits ATP synthase

A

Oligomycin

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9
Q

an enzyme that is inhibited by fluoroacetate (found in rat poisons)

A

Aconitase

citrate to isocitrate in krebs

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10
Q

Coenzyme of Pyruvate carboxylase

A

Biotin

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11
Q

Irreversible reactions of glycolysis

A

hexokinase
phosphofructokinase
pyruvate kinase

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12
Q

main stores of glycogen in the body

A

skeletal muscles

liver

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13
Q

Primary product if glycogenolysis

A

glucose 1 phosphate

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14
Q

Type of glycogen storage disease characterized by neutropenia and recurrent infections

A

Type 1b (glucose 6 phosphate translocase deficiency)

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15
Q

building block of glycogen

A

UDP glucose

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16
Q

Fructokinase is found in

A

liver
kidney
small intestine mucosa

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17
Q

autosomal recessive disease characterized by severe hypoglycemia, jaundice, hemorrhage, hepatomegaly, renal dysfunction, hyperuricemia and lacticacidemia due to absence of aldolase B

A

hereditary fructose intolerance (fructose poisoning)

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18
Q

Elevated galactitol can cause

A

cataracts

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19
Q

rare autosomal recessive disorder that causes galactosemia and galactosuria

A

Galactokinase deficiency

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20
Q

enzyne deficient in classic galactosemia

A

galactose 1 phosphate uridyltransferase (GALT)

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21
Q

autosomal recessive disorder that causes galactosemia, galactosuria, vomiting, diarrhea and jaundice

A

Classic galactosemia

- absolute contraindication to breastfeeding

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22
Q

Drugs that produce hemolytic anemia in pxs with G6PD?

A

AAA
antibiotics (sulfamethoxazole and chloramphenicol)
anti-malarials (primaquine but NOT quinine)
anti-pyretucs (acetanilud but NOT acetaminophen)

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23
Q

Most abundant GAGs in the body

A

Chrondoitin 4 and 6 sulfates

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24
Q

is a clinically asymptomatic genetic condition in Ashkenazi jews that involves deficiency in NADPH dependent Xylulose redutase. L-xylulose is found in significant amounts in urine.

A

Essential pentosuria

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25
Q

Beta glucuronidase deficiency

A

Sly syndrome (MPS III)

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26
Q

Enzyme deficient in Hurler syndrome

A

a-L-iduronidase

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27
Q

corneal clouding, mental retardation, dwarfism

A

Hurler syndrome (MPS I)

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28
Q

Primary target of lingual lipase

A

short and medium FA

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29
Q

Emulsification of lipids occurs in the

A

duodenum

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30
Q

An anti-obesity drug that inhibits gastric and pancreatic lipases leading to decrease fat absorption.

A

Orlistat

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31
Q

essential fatty acids

A

linoleic acid

a-linolenic acid

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32
Q

essential fatty acid deficiency can result in

A

ichthyosis (scaly dermatitis)

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33
Q

primary end product of fatty acid synthase activity

A

palmitate

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34
Q

beta oxidation of fatty occurs in the

A

mitochondrial matrix

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35
Q

a specialized carrier that transports the long chain acyl group from cytosol into the inner mitochondria

A

carnitine

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36
Q

Sources of carnitine

A

Diet: meat products
Synthesized from amino acids lysine and methionine by an enzymatic pathway found in the liver and kidney

Skeletal muscle: 97% carnitine

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37
Q

rate limiting step in F.A synthesis

A

carboxylation of acetyl CoA to malonyl CoA

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38
Q

rate limiting step in the synthesis of ketones

A

HMG CoA synthase

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39
Q

triacylglycerol synthesis occurs only in

A

adipose tissue
liver
lactating mammary glands
intestinal mucosal cells

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40
Q

major lipid component of lung surfactant

A

dipalmitoylphosphatidylcholine

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41
Q

the major structural lipid in the membranes of the nerve tissue

A

sphinginyelin

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42
Q

Niemann-Pick disease is caused by deficiency of what enzyme

A

Sphingomyelinase (accumulation of sphingomyelin)

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43
Q

Lysosomal storage disease characterized by enlarged spleen and liver.

A

Niemann-Pick disease (Type A)

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44
Q

Shell-like inclusion bodies

A

Tay-Sachs

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45
Q

rapid, progressive and fatal neurodegenerative disease associated with blindess, cherry red macula, muscular weakness and seizures.

A

Tay-Sachs disease

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46
Q

Accumulation of gangliosides (GM2)

A

Tay-Sachs

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47
Q

MC lysosomal storage disease

A

Gaucher disease

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48
Q

accumulation of glucocerebrosides characterized by hepatosplenomegaly, osteoporosis.

A

Gaucher disease

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49
Q

arylsulfatase deficiency

A

metachromatic leukodystrophy

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50
Q

condition associated with accumulation of sulfatides characterized by cognitive deterioration, demyelination, progressive paralysis and dementia.

A

Metachromatic leukodystrophy

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51
Q

beta galactosidase deficiency

A

Krabbe disease (Globoid cell leukodystrophy)

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52
Q

Globoid bodies (glycolipid-laden macrophage) in white matter of the brain is seen in what condition

A

Krabbe disease

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53
Q

Hexoaminidase A deficiency

A

Tay-Sachs

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54
Q

condition associated with deficiency of Hexoaminidase A and B ;accumulation of GM2 and globosides

A

Sandhoff disease

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55
Q

a-galactosidase deficiency

A

Fabry disease

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56
Q

condition associated with accumulation of globosides characterized by reddish-purple skin rash, kidney and heart failure and burning pain in lower extremities

A

Fabry disease

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57
Q

ceraminidase deficiency

A

Farber disease

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58
Q

accumulation of ceramide characterized by painful and progressive joint deformity, subcutaneous nodules and hoarse cry

A

Farber disease

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59
Q

Beta glucosidase deficiency

A

Gaucher disease

glucocerebrosidase

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60
Q

dietary precursor of prostaglandins

A

linoleic acid

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61
Q

2 isozymes of PGH synthase

A

COX 1 and 2

  • COX 1- required for maintenance of healthy gastric tissue, renal homeostasis and platelet aggregation.
  • COX 2 - in response to products of activated immune and inflammatory cells
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62
Q

rate limiting step in cholesterol synthesis

A

HMG-CoA reductase ( reduction of HMG-CoA to mevalonate)

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63
Q

autosomal recessive disorder caused by partial deficiency in 7-dehydrocholesterol-7-reductase (DHCR7)

A

Smith Lemi Opitz Syndrome (SLOS)

impaired cholesterol synthesis (DHCR7 is required for the reduction of 7-dehydrodesmosterol to desmosterol
characterized by microcephaly, bitemporal narrowing, capillary hemangioma of the nose

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64
Q

Primary bile acids

A

Cholic acid

Chenodeoycholic acid

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65
Q

rate limiting step in bile acid synthesis

A

introduction of hydroxyl group at carbon 7 of the steroid nucleus by cholesterol-7-a-hydroxylase

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66
Q

is a rare hypolipoproteinemia caused by defect in microsomal triacylglyerol caused by defect in MTP. As a consequence, no VLDL or chylomicrons are formed.

A

Abetalipoproteinemia

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67
Q

autosomal recessive cause by deficienies in the ability to hydrolyze lysosomal cholesteryl esters

A

Wolman disease

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68
Q

deficiency of ABCA1, characterized by the virtual absence of HDL particles due to degradation of lipid poor apo A-1

A

Tangier disease

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69
Q

rate limiting reaction of steroid hormone synthesis

A

conversion of cholesterol to the 21-carbon pregnenolone (desmolase)

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70
Q

MC form of Congenital Adrenal Hyperplasia

A

21-a-hydroxylase deficiency

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71
Q

autosomal recessive characterized by no glucoorticoids, no mineralocorticoids and no androgens

A

3-B-hydroxysteroid dehydrogenase deficiency

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72
Q

Parent compound for all steroid hormones

A

Pregnenolone

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73
Q

zones of the adrenal cortex and their corresponding hormones

A

zona glomerulosa - mineralocorticoid (aldosterone)
zona fasciculata - glucocorticoid (cortisol)
zona reticularis - sex hormones

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74
Q

hormone that induces testosterone synthesis in the Leydig cells, induces ovulation and stimulates estrogen & progesterone synthesis in the corpus luteum

A

Luteinizing hormone

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75
Q

is a disease of malabsorption resulting from immune-mediated damage to the small intestine in response to ingestion of gluten (or gliadin from gluten), a protein found in wheat, barley and rye.

A

Celiac sprue

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76
Q

Drug used to treat pxs with urea cycle defects

A

Phenylbutyrate

  • prodrug that is rapidly converted to phenylacetate, which combines with glutamine to form phenylglutamine.
  • phenylglutamine containing two atoms of nitrogen, is excreted in the urine, thus assisting clearance of nitrogenous waste
77
Q

MC cause of congential hyperammonemia

A

OTC deficiency (X-linked)

78
Q

Essential amino acids

A 
1. Glucogenic
histidine
methionine
threonine
valine
  1. Ketogenic
    leucine
    lysine
  2. glucogenic & ketogenic
    isoleucine
    phenylalanine
    tryptophan
79
Q

Amino acid that form Oxaloacetate

A

Asparagine

80
Q

enzyme that is used to treat leukemia. It deprives the cancer cells of its required nutrient.

A

Asparaginase

  • rapidly dividing leukemic cells are unable to synthesize sufficient asparagine to support their growth therefore require asparagine from blood.
  • Asparaginase lowers the level of asparagine
81
Q

amino acids that form a-ketoglutarate

A

glutamine
proline
arginine
histidine

82
Q

amino acids that form pyruvate

A 
alanine
serine
glycine
cystine
threonine
83
Q

amino acids that form fumarate

A

phenylalanine

tyrosine

84
Q

amino acid that forms succinyl CoA

A

methionine
valine
isoleucine
threonine

85
Q

3 vitamins involved in the conversion of homocysteine to methionine or cysteine

A

folate
B12
B6

86
Q

Branched-chain amino acids

A

Leucine
Isoleucine
Valine

87
Q

amino acids that form acetyl CoA

A

Leucine
Isoleucine
Lysine
Tryptophan

88
Q

MC genetic error of amino acid transport

A

Cystinuria

89
Q

disease due to a deficiency in fumaryl-acetoacetate hydrolase; accumulation of fumarylqcetoacetate; cabbage like odor in urine

A

Tyrosinemia type 1

90
Q

this disease is due to a deficiency in branched-chain a-keto acid dehydrogenase; elevated branched chain amino acids

A

Maple syrup urine disease

91
Q

this disease is due to a deficiency in methylmalonyl CoA mutase; elevated levels of methylmalonic acid in blood

A

Methylmalonate CoA mutase deficiency

92
Q

this disease is due to a deficiency in histidase

A

Histidemia

93
Q

characterized by accumulation of cystathionine due to a deficiency in cystathionase

A

Cystthioninuria

94
Q

due to a deficiency in cystathionine synthase; accumulation of homocysteine
-MR, osteoporosis, M.I, dislocation of lens

A

Homocystinuria

95
Q

caused by a deficiency of phenyalanine hydroxylase

96
Q

MC cause of homocystinuria

A

defect in the enzyme cystathionine B-synthase

97
Q

disease due to a deficiency of homogenistic acid oxidase characterized by black urine, large joint arthritis, black pigments on cartilage

A

Alkaptonuria

98
Q

what enzyme is deficient in homocystinuria, methylmalonic acidemia, MSUD, oculocutaneous albinism, PKU

A 
cystathionine B synthase
methylmalonic CoA mutase
branched chain a keto dehydrogenase
tyrosinase
phenylalanine hydroxylase
99
Q

major sites of heme synthesis

A

liver

erythrocyte producing cells of the bone marrow

100
Q

rate limiting step in porphyrin biosynthesis

A

formation of ALA (ALA synthase)

101
Q

MC porphyria

A

Porphyria cutanea tarda

102
Q

disease associated with deficiency in uroporphyrinogen decarboxylase

A

Porphyria cutanea tarda

103
Q

ALA dehydratase deficiency characterized by acute attacks of gastrointestinal, neuropsychiatric, motor symptoms and photosensitivity

A

Acute hepatic porphyria

104
Q

characterized by skin rashes and blisters in early childhood. complicated by cholestatic liver disease

A

erythropoietic porphyria

105
Q

an acute disease caused by a deficiency in hydroxymethylbilane synthase.

A

acute intermittent porphyria

not photosensitive

106
Q

disease is caused by a deficiency in ferrochelatase leading to protoporphyrin accumulation

A

erythropoietic protoporphyria

107
Q

acute disease caused by a deficiency in protoporphyrinogen oxidase

A

variegate protoporphyria

108
Q

acute diseasae caused by a deficiency in corproporphyrinogen oxidase

A

hereditary coproporphyria

109
Q

normal production of bilirubin

A

300 mg/day

110
Q

the parent purine nucleotide

A

inosine monophosphate

111
Q

X-linked recessive inherited disorder associated with deficiency of hypoxanthineguanine phosphoribosyl transferase (HGPRT) characterized by excessive uric acid production, self mutilation and involuntary movements

A

Lesch Nyhan syndrome

112
Q

end product of purine degradation

113
Q

definitive diagnosis of gout

A

aspiration of synovial fluid from an affected joint using a polarized light microscopy to confirm the presence of needle shaped monosodium urate crystals

114
Q

this disorder is characterized by hyperuricemia with recurrent attacks of acute arthritic joint inflammation caused by deposition of monosodium urate crystals

A

gout

-hyperuricemia results in underexcretion of uric acid

115
Q

drug that inhibits xanthine oxidase

A

allopurinol (in the body converted to oxypurinol)

  • resulting in accumulation of hypoxanthine and xanthine (more soluble compounds)
  • for overproducers of uric acid
116
Q

autosomal recessive deficiency causes a type of severe combined immunodefiency involving lymphocytopenia

A

adenosine deaminase deficiency

  • lymphocytes have the highest activity of ADA
  • accumulation of adenosine which is converted to ribonucleotide or deoxyribonucleotide by cellular kinases
  • elevate dATP results in inhibition of ribonucleotid reductase
  • thus preventing production of all deoxyribose containing nucleotides
  • developmentak arrest and apoptosis of lymphocytes
117
Q

autosomal recessive, less severe Immunodeficiency disease involving T cells characterized by recurrent infections and neurodedvelopmental delay

A

purine nucleoside phosphorlase (PNP) deficiency

118
Q

drug that prevents formation of microtubules thus decreasing the movement of neutrophils into the affected area

A

colchicine

-no effect on uric acid levels

119
Q

drugs that increase renal excretion of uric acid

A 
uricosuric agents (probenecid or sulfinpyrazone) 
- for underexcretors of uric acid
120
Q

non-purine inhibitor of xanthine oxidase

A

febuxostat

121
Q

oral hypoglycemic agent that increases insulin secretion by closing ATP sensitive potassium channels

A

sulfonyureas

122
Q

the counter regulatory hormones

A

glucagon
epinephrine
cortisol
growth hormone

123
Q

Treatment for insulin induced hypoglycemia in conscious and unconscious pxs

A

oral CHO

SC or IM glucagon

124
Q

Folic acid deficiency will lead to

A

megaloblastic anemia

neural tube defects

125
Q

Cobalamin (vit B12) deficiency

A

penicious anemia
dementia
spinal degeneration

126
Q

Vitamin C deficiency

127
Q

Niacin (Vitamin B3) deficiency

A

Pelagra (dementia, dermatitis, diarrhea)

128
Q

thiamine (Vit B1) deficiency

A

beriberi

wernicke-korsakoff syndrome

129
Q

Other names of the fat soluble vitamins

A

A - retinol, retinoic acid, retinal, B carotene
D - cholecalciferol, ergocalciferol
E- a tocopherol
K - menadione, menaquinone, phylloquinone

130
Q

Vitamin A deficiency

A

night blindess, infertility

131
Q

Vitamin D deficiency

A

rickets in children

osteomalacia in adults

132
Q

Vitamin K deficiency

133
Q

Saturated fatty acids

A

Myristic
Palmitate
Stearic -little effect on blood cholesterol

134
Q

define as the negative log of the hydrogen ion concentration

135
Q

normal pH of blood

A

7.35 - 7.45

136
Q

Nicotinamide adenine dinucleotide (NAD) is derived from?

A

vitamin B3 - niacin

137
Q

Inhibitors of complex IV (cytochrom oxidase)

A

cyanide
carbon monoxide
sodium azide
hydrogen sulfide

138
Q

inhibitors of complex I (NADG dehydrogenase)

A

barbiturates
amytal
rotenon
piericidin A

139
Q

inhibitors of complex II (succinate dehydrogenase)

A

malonate
carboxin
TTFA (thenoyltrifluoroacetone)

140
Q

inhibitors of complex ||| (ubiquinol ferrocytochrome oxireductase

A

antimycin A

dimercaprol

141
Q

Example of uncouplers

A

2,4 dinitriphenol
aspirin
thermogenin
brown fat

142
Q

hyperpyrexia related to aspirin overdose is due to

A

aspirin uncoupling

143
Q

Other name of complex V

A

ATP synthase

144
Q

are unstable products that are formed as a by product of ETC when molecular oxygen is partially reduced

A

reactive oxygen species (superoxide, hydrogen peroxide, hydroxyl radical)

145
Q

Defenses against ROS accumulation

A

Superoxide dismutase
catalase
glutathione peroxidase

146
Q

mitochondria disease involving all complexes

A

fatal infantile mitochondrial myopathy

147
Q

mitochondrial disease involving complex 1

A

MELAS
mitochondrial encephalomyopathy, lactic acidosis, stroke like episodes
- one of the reasons for stroke in the young

148
Q

single most common sign of mitochondrial myopathy

A

chronic progressive external opthalmoplegia

149
Q

mitochondrial disease involving complex II with a define triad of clinical findings before age 20, CPEO and pigmentary retinopathy

A

Kearns sayre syndrome (KSS)

  • cardinal sign: DM
  • cause of death: heart block
  • MC caus is a deletion of 4,977 bp contiguous of mtDNA

Harrisons pg. 3503

150
Q

MC mitochondrial encephalomyopathy

A

MELAS
- 1st sign: seizure
occur before age 20
cause by point mutation of mtRNA

151
Q

myoclonic epilepsy, cerebellar ataxia, progressive muscle weakness

A

Myoclonic epilepsy with ragged red fibers

152
Q

MC cause of recurrent myoglobinuria

A 
Carnitine palmitoyltransferase (CPT II) deficiency
- early twenties, muscle pain, myoglobinuria after long exercise
153
Q

seizure disorder associated with MR

A

phosphofglycerate kinase deficiency

disorders of glycolysis

154
Q

slowly, progressive form of muscle weakness that develops after puberty. usually diagnosed in infancy bcoz of hypotonia, delayed motor milestones and growth retardation

A

debranching enzyme deficiency (type 3 glycogenosis)

155
Q

prominent contracturew, muscle weakness, cardiomyopathy

A

Emery dreifuss muscular dystrophy
- caused by emerin mutations
X linked

156
Q

glucose + glucose

157
Q

disaccharide found in fungi and yeasts

158
Q

polysaccharide of fructose used to determine GFR

159
Q

compounds that have same chemical formula but different structures

160
Q

compounds that differ in configuration around only one specific carbon atom with exception of the carbonyl carbon

161
Q

pairs of structures that are mirror images of each other

A

enantiomers

162
Q

sugars are convertible between a linear or cyclic form

A

anomners
MC is cyclic or ring form (haworth projection)
linear is fischer

163
Q

principal sites of CH2OH digestion

A

mouth

intestinal lumen

164
Q

carbohydrate digestion begings during

A

mastication (salivary amylase)

165
Q

major pathway of glucose metabolism that converts glucose into 3 carbon compounds to provide energy

A

glycolysis

  • occurs in the cytoplasm
  • substrate is glucose
  • end product are pyruvate (aerobic) or lactate (anaerobic)
166
Q

ATP production in glycolysis occurs in

A
  1. 1,3 bisphosphoglycerate to 3, phosphoglycerate (phosphoglycerate kinase)
  2. PEP to pyruvate (pyruvate kinase)
167
Q

chemical that inhibits pyruvate dehydrogenase by binding to lipoic acid

168
Q

MC enzyme defect in glycolysis

A

pyruvate kinase deficiency

169
Q

an x linked dominant condition and is the most common cause of congenital lactic acidosis

A

pyruvate dehydrogenase deficiency

170
Q

it is the final common pathway for the aerobic oxidation of all nutrients

A

TCA

substrate: acetyl CoA
products: CO2, GTP, NADH, FADH2

171
Q

rate limiting step of TCA

A

isocitrate to a ketoglutarate

enzyme: isocitrate dehydrogenase

172
Q

NADH production in TCA occurs in

A
  1. isocitrate to a ketoglutarate (isocitrate dehydrogenase)
  2. a ketoglutarate to succinyl CoA (a ketoglutarate dehydrogenase)
  3. malate to OAA (malate dehydrogenase)
173
Q

GTP production on TCA occurs in

A

succinyl CoA to succinate (succinate thiokinase)

174
Q

FADH2 in TCA occurs in

A

succinate to fumarate (succinate dehydrogenase)

175
Q

CO2 production in krebs occurs in

A

isocitrate to aketoglutarate

aketoglutarate to succinyl CoA

176
Q

ATP yield for TCA

A

12 ATP from acetyl CoA
15 ATP from pyruvate

NADH 3x3 = 9
FADH 1 x 2 = 2
GTP = 1

177
Q

intermediates of TCA

A

citrate: delivers acetyl CoA to the cytoplasm for F.A synthesis via citrate shuttle
succinyl CoA: heme synthesis and activation of ketone bodies
malate: gluconeogensis

178
Q

rate limiting step of gluconeogenesis

A

fructose 1,6 bisphosphate to fructose 6 phosphate

enzyme: fructose 1,6 bisphosphatase

179
Q

gluconeogenesis occurs in

A

liver 90%
kidney 10%

both cytoplasm and mitochondrial

substrate: pyruvate
product: glucose

180
Q

step in gluconeogenesis that requires biotin

A

pyruvate to OAA (pyruvate carboxylase)

181
Q

all carboxylases require ______ cofactor

A

biotin

pyruvate carboxylase
acetyl CoA carboxylase
propionyl CoA carboxylase

182
Q

rate limiting step of glycogenesis

A

elongation of glycogen; addition of a (1,4) bonds

glycogen synthase

183
Q

rate limiting step of glycogenolysis

A

removal of glucose (break a 1,4 bonds)

glycogen phosphorylase

184
Q

benign condition characterized by appearance of fructose in blood and urine due to defect in fructokinase

A

essential fructosuria

185
Q

substrate for pentose phosphat pathway

A

glucose 6 phosphat

186
Q

products for pentose phosphate pathway

A

ribose 5 phosphate
glyceraldehyde 3 phosphate
NADPH

187
Q

rate limiting step of Pentose phosphate pathway

A

glucose 6 phosphate to 6 phosphogluconate

glucose 6 p dehydrogenase

188
Q

used to diagnose thiamine deficiency

A

rbc transketokase activity

189
Q

MC common disease producing enzyme abnormality in humans

A

glucose 6 phosphate dehydrogenase deficiency

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