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Collective Deck > Biochemistry 1- Boards And Beyond > Flashcards

Biochemistry 1- Boards And Beyond Flashcards

1
Q

What is the mutation in alpha 1 antitrypsin deficiency

A

Mutation in AAT gene

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2
Q

What is the definition of expressivity

A

Variations in phenotype of gene

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3
Q

What is the definition of pleiotropy

A

One gene= multiple phenotypic effects and traits

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4
Q

What is the mutation in lynch syndrome (HNPCC)

A

Germaine mutation in DNA mismatch repair genes

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5
Q

What are some main criteria of McCune-Albright Syndrome

A

Affects many endocrine organs, precocious puberty (menstruation may occur 2 years old), fibrous growth in bones, skin pigmentation (cafe-au-lait spots)

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6
Q

What is the mutation in McCune-Albright syndrome

A

Somatic mutation of GNAS gene

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7
Q

What stage do primary oocytes arrest in until puberty

A

In prophase of meiosis I until puberty

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8
Q

Where do secondary oocytes arrest until fertilization

A

Metaphase 2

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9
Q

What are the Acrocentric chromosomes

A

13, 14, 21, 22

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10
Q

What are some classic examples of incomplete dominance

A

Achondroplasia, familial hypercholesterolemia

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11
Q

What are some classic examples of X-linked recessive

A

Hemophilia A and B

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12
Q

What is the classic example of X-linked dominant

A

Fragile X syndrome

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13
Q

What are some common findings with Edward syndrome (trisomy 18)

A

Poor intrauterine growth, abnormally shaped head, low set ears, small jaw and mouth, rocker bottom feet, GI defects

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14
Q

What are some common characteristics of Patau syndrome (trisomy 13)

A

Severe intellectual disability, severe structural malformations, eye abnormalities, cleft lip and palate, post-axial polydactyly

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15
Q

What is the repeat associated with fragile X syndrome

A

CGG repeats

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16
Q

What chromosome is the frataxin gene involved in friedreichs ataxia on

A

9

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17
Q

What repeat is associated with huntington’s disease

A

CAG repeat

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18
Q

What expansion is associated with Myotonic dystrophy

A

CTG expansion

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19
Q

What is the disorder classified as deletion of part of short arm (p) of chromosome 5

A

Cri-du-chat syndrome

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20
Q

What is the disorder caused by partial deletion on long arm of chromosome 7

A

Williams syndrome

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21
Q

What are some characteristics of Williams syndrome

A

Elfin-facial appearance (small nose, chin; wide mouth), intellectual disability, well-developed verbal skills, extremely friendly with strangers, supravalvular aortic stenosis

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22
Q

What is the goal of purine synthesis

A

Create AMP and GMP

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23
Q

What is step one and 2 of purine synthesis

A

Step one is create PRPP; step 2 is create IMP

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24
Q

What are the nitrogen sources of purine synthesis

A

Aspartate, glycine, glutamine

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25
Q

What is the rate limiting step of purine synthesis

A

Glutamine-PRPP-amidotransferase

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26
Q

What is the classic presentation of lesch-Nyhan syndrome

A

Male child with motor symptoms, self-mutilation, gout

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27
Q

What is step one and 2 of pyrimidine synthesis

A

Step one is make carbamoyl phosphate; step 2 is make orotic acid

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28
Q

What is the defect with orotic aciduria

A

UMP synthase

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29
Q

What are some key findings with orotic aciduria

A

Orotic acid in urine, megaloblastic anemia (but no B12/folate response), growth retardation

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30
Q

What occurs with there is ornithine transcarbamylase deficiency

A

Increased carbamoyl phosphate

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31
Q

What 2 monosaccharides make up lactose

A

Galactose and glucose

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32
Q

What 2 monosaccharides make up sucrose

A

Fructose and glucose

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33
Q

Where is GLUT-1 and is it insulin dependent or independent

A

Brain, RBC; independent

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34
Q

Where is GLUT-4 and is it insulin dependent or independent

A

Fat tissue, skeletal muscle; insulin dependent

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35
Q

Where is GLUT-2 and is it insulin independent or dependent

A

Liver, kidney, intestine, pancreas; independent

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36
Q

What inhibits glucokinase in glycolysis

A

F6P

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37
Q

What does glucokinase deficiency result in medically

A

Hyperglycemia

38
Q

What is the rate limiting step of glycolysis

A

Phosphofructokinase

39
Q

What are key regulators of phosphofructokinase in glycolysis

A

Citrate, ATP

40
Q

What are key inducers of phosphofructokinase in glycolysis

A

AMP, fructose-2,6-bisphosphate

41
Q

What type or heredity is pyruvate kinase deficiency

A

Autosomal recessive

42
Q

What must be present in order for pyruvate carboxylase to be active

A

Acetyl CoA

43
Q

What is the first step in gluconeogenesis and what is the required cofactor

A

Pyruvate carboxylase; biotin

44
Q

What are some clinical signs of biotin deficiency

A

Dermatitis, glossitis, loss of appetite, nausea

45
Q

What is the rate limiting step of gluconeogenesis

A

Fructose-1,6-bisphosphatase 1

46
Q

Where do you get glucose-6-phosphatase for the conversion of glucose-6-phosphate to glucose in gluconeogenesis

A

Endoplasmic reticulum

47
Q

How does thyroid hormone effect gluconeogenesis

A

Increases it

48
Q

What is deficient in Von Gierke’s disease

A

Glucose-6-phosphatase

49
Q

Describe the presentation of von gierkes disease

A

Presents in infancy (2-6 months), severe hypoglycemia between meals (seizures), No effect on muscle

50
Q

What is deficiency in pompe’s disease

A

Acid alpha glucosidase deficiency

51
Q

What is the clinical presentation of pompes disease

A

Presents in infancy, enlarged muscles (cardiomegaly, enlarged tongue), hypotonia, death from heart failure

52
Q

What is deficient in cori’s disease

A

Debra Ching enzyme

53
Q

What is the clinical presentation of cori’s disease

A

Similar to type 1 (von gierkes) except milder hypoglycemia, no lactic acidosis (cori cycle intact), muscle involvement

54
Q

What is deficient in McArdle disease

A

Muscle glycogen phosphorylase

55
Q

What is the clinical presentation of McArdles disease

A

Presents in adolescence/early adulthood; exercise intolerance, fatigue, cramps; myoglobinuria and CK release; urine may turn dark after exercise

56
Q

Where does the HMP shunt occur (Pentose phosphate pathway)

A

Cytosol

57
Q

What is the first enzyme involved in the oxidative reactions of the HMP shunt

A

Glucose-6-phosphate dehydrogenase

58
Q

What is the required cofactor for transketolase

A

Thiamine (B1)

59
Q

What are the 3 key enzymes in the respiratory burst

A

NADPH oxidase, superoxide dismutase, myeloperoxidase

60
Q

What are the 5 organisms that cause almost all Chornic granulomatous disease infections

A

Staph aureus, pseudomonas, serratia, nocardia, aspergillosis

61
Q

What are bite cells in G6PD deficiency

A

Phagocytic removal by splenic macrophages

62
Q

What are Heinz bodies of G6PD deficiency

A

Oxidized Hgb precipitated in RBCs

63
Q

What is deficient in essential fructosuria

A

Fructokinase

64
Q

What is deficiency in hereditary fructose intolerance

A

Aldolase B

65
Q

What is teh clinical presentation typically seen with hereditary fructose intolerance

A

Baby just weaned from breast milk, failure to thrive, hypoglycemia (seizures), enlarged liver

66
Q

What is deficient in classic galactosemia and what is the typical clinical presentation

A

Deficiency of galactose-1 phosphate uridyltransferase; presents in infancy shortly after consumption of milk; liver failure, jaundice, hepatomegaly

67
Q

What are the 5 cofactors required for pyruvate dehydrogenase complex

A

NAD+, FAD+, coenzyme A, thiamine, lipoid acid

68
Q

What 4 enzymes is thiamine a cofactor for

A

Pyruvate dehydrogenase, alpha-ketoglutarate dehydrogenase, alpha-ketoacid dehydrogenase, transketolase

69
Q

What is FAD+ synthesized from

A

riboflavin (B2)

70
Q

What are the key lab findings with PDH complex deficiency

A

Elevated alanine; lactic acidosis

71
Q

Where do all reactions of the TCA occur

A

Mitochondria

72
Q

What is the rate limiting enzyme in the TCA cycle

A

Isocitrate dehydrogenase (isocitrate to alpha-ketoglutarate)

73
Q

What is another name for complex 1 of the Electron transport chain

A

NADH dehydrogenase

74
Q

What are the key intermediates of complex 1 of ETC

A

Flavin mononucleotide (FMN) and iron sulfur compounds (FeS)

75
Q

What is another name for complex 2 of the ETC

A

Succinate dehydrogenase (also part of TCA cycle)

76
Q

What is another name for complex 3 of ETC

A

Cytochrome bc1 complex

77
Q

What is the rate limiting step of fatty acid synthesis

A

Acetyl-CoA converted to malonyl CoA (via acetyl-CoA carboxylase)

78
Q

What activates fatty acid breakdown

A

Glucagon and epinephrine

79
Q

What are some characteristics of the infantile phenotype of primary systemic carnitine deficiency

A

Encephalopathy, hepatomegaly, hyperammonia, hypoketotic hypoglycemia, low serum carnitine

80
Q

What are the 3 major Ketone bodies

A

Acetone, acetoacetate, 3-hydroxybutyrate

81
Q

Where does the conversion of ethanol to acetaldehyde via alcohol dehydrogenase occur

A

Cytosol

82
Q

Where does the conversion of acetaldehyde to acetate via aldehyde dehydrogenase occur

A

Mitochondria

83
Q

What is the trigger for all biochemical problems related to ethanol

A

Increased NADH

84
Q

What is inadequate in kwashiorkor and marasmus

A

In kwashiorkor it is inadequate protein intake; in marasmus it is inadequate overall energy intake (insufficient total calories)

85
Q

What type of disorders of hypoketotic hypoglycemia

A

Mitochondrial disorders

86
Q

What are lab findings that suggest inborn errors of metabolism

A

Hypoglycemia, kerosine, hyperammonemia, lactic acidosis

87
Q

What glycogen storage diseases have no hypoglycemia

A

McArdles disease (type 5), pompes disease (type 2)

88
Q

What is deficient in maple syrup urine disease

A

Alpha ketoacid dehydrogenase

89
Q

What is elevated in all mitochondrial disorders

A

Alanine

90
Q

What are the lab findings with PDH complex deficiency

A

Elevated alanine, lactic acidosis, no hypoglycemia

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