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Bonus exam > Baker Exam 3 > Flashcards

Baker Exam 3 Flashcards

1
Q

groups of inborn errors of metabolism

A
  1. metabolites
  2. metabolic pathway
  3. Function of enzyme
  4. function of organelle
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2
Q

Most IEMs, genetics wise are …

A

autosomal recessive or X linked recessive

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3
Q

IEMs of amino acid metabolism

A

PKU Oculocutaneous albinism branched chain aa metabolism - maple syrup urine disease

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4
Q

IEMs of Carbohydrate metabolism

A

G6PDDmonosaccharide metabolism - galactosemia, hereditary fructose intoleranceglycogen storage disorders - von gierke, cori, anderson, pompe, Mcardle syndromes; hepatic phosphorylase deficiency

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5
Q

IEMs of steroid metabolism

A

congenital adrenal hyperplasia androgen insensitivity syndrome

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6
Q

IEM of Lipid metabolism

A

familial hypercholesterolemia

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7
Q

Lysosomal storage disorders

A

mucopolysaccharidoses sphingolipidoses

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8
Q

Purine/pyrimidine metabolism

A

Lesch Nyhan syndrome SCID

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9
Q

IEM of Porphyrin metabolism

A

Hepatic Erythropoietic

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10
Q

Untreated PKU (phenylketonuria) leads to

A

severe intellectual impairments and development of seizures

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11
Q

Defects in branched chain AA metabolism leads to

A

Maple syrup urine disease

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12
Q

What deficiency causes PKU?

A

defect in the enzyme Phenylalanine hydroxylase (PAH) which converts Phenylalanine into Tyrosine, results in deficiency of Tyrosine which is required for melanin synthesis this leads to buildup of phenylalanine which then converts to phenylpyruvic acid that is excreted through urine

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13
Q

Branched chain AA?

A

Valine
Leucine
Isoleucine

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14
Q

What is the prognosis for pts with Maple syrup disease?

A

tend to be susceptible to deterioration even with dietary restriction tend to suffer recurrent illnesses from the catabolic protein breakdown

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15
Q

What defect leads to Maple syrup disease?

A

branched chain ketoacid decarboxylase deficiency leads to Val, Leu and Ile

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16
Q

Single largest metabolic disorder?

A

Glucose 6 Phosphate dehydrogenase

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17
Q

G6PDD genetically is ….

A

X linked recessive

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18
Q

What is G6PD responsible for?

A

oxidative step of pentose phosphate pathway

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19
Q

What type of cell in G6PDD pts is most affected?

A

Red blood cells because unlike other cells doesnt have other ways to handle oxidative stress

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20
Q

with G6PDD, there is a defect in ….

A

the ability to handle oxidative damage because there is reduced ability to produce NADPH, this is a potent reducer to protect against oxidative damage

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21
Q

G6PDD Pt suffers acute oxidative damage from exposure to moth balls, what could occur?

A

Hemolytic anemia - presents as jaundice (see in newborns with G6PDD), paleness, dark urine, fatigue, shortness of breath/rapid heart rate, splenomegaly

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22
Q

Galactosemia pts are deficient in …

A

galactose 1-phosphate uridyl transferase

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23
Q

Galactosemic newborn presents with

A

vomiting, lethargy, failure to thrive and jaundice within the second week of life

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24
Q

Untreated galactosemia leads to

A

mental retardation cataracts liver cirrhosis

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25
Q

Hereditary Fructose intolerance is caused by?

A

deficiency in fructose-1-phosphate aldolase (Aldolase B) leads to build up of Fructose in liver

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26
Q

Glycogen stores are largest in

A

liver and muscles

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27
Q

Congenital Adrenal Hyperplasia caused by

A

deficiency in 21-hydroxylase -90%MCC of ambiguous genitalia in FEMALE newborns salt losing form - presents 2-3 wks of life with circulatory collapse, hyponatremia, hyperkalemia

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28
Q

Androgen insensitivity syndrome

A

Receptor defective leaving pt unresponsive to testosterone leading to external female characteristics

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29
Q

Familial Hypercholesterolemia

A

Autosomal dominant single gene disorder High morbidity and mortality rates via premature coronary artery disease

30
Q

Familial Hypercholesterolemia is characterized by

A

problems with the LDL receptor which leads to increased endogenous synthesis of cholesterol

31
Q

What issues can there be with receptors in FH?

A

reduced/defective biosynthesis reduced/defective transport abnormal binding of LDL by the receptor abnormal internalization of the receptor

32
Q

Mucopolysaccharidoses are characterized by

A

skeletal, vascular or CNS along with coarsening of facial features

33
Q

What is Mucopolysaccharidoses due to?

A

progressive accumulation of sulfated polysaccharides

34
Q

Sanfilippo syndrome

A

Most common MPS due to deficiency in any one of four enzymes involved in degradation of heparin sulfate

35
Q

Most common Sphingolipidoses?

A

Tay Sachs - high incidence among Ashkenazi jews Gaucher

36
Q

Tay Sachs is due to…

A

deficiency in subunit of beta-hexosaminidase, this results in accumulation of sphingolipid GM2 ganglioside

37
Q

What is a diagnostic clue for Tay Sachs?

A

presentation of characteristic cherry red spot in the center of the macula fundus

38
Q

Gaucher is due to ….

A

glucosylceramide beta glucosidase

39
Q

Lesch Nyhan syndrome

A

Hypoxanthine guanine phophoribosyltransferase (HGPRT) leads to increased amounts of purines - see 200x higher levels - likely due to increased amounts of PRPP

40
Q

Symptoms of Lesch Nyhan syndrome

A

uric acid crystals uncontrolled movements spasticity mental retardation compulsive self mutilation

41
Q

Adenosine Deaminase Deficiency

A

inherited immunodeficiency defect in adenosine deaminase - responsible for 15% of SCID - bubble boy disease

42
Q

Adenosine deaminase is responsible for …

A

conversion of AMP to IMP in purine salvage pathway pts are severely deficient in both T and B cells, leaving them without functional immune system

43
Q

Porphyrins are …

A

ringed structures which can chelate metal ions

44
Q

What are the two main phorphyrin functions?

A

liver - cytochromes in ETC and detox of substances Erythrocytes - hemoglobin

45
Q

Acute Intermittent Porphyria

A

due to deficiency uroporphyrinogen I synthase which leads to increased excretion of precursors porphobilinogen and S-aminolevulinic acid in urine

46
Q

Congenital Erythropoietic Porphyria characterized by

A

extreme photosensitivity hemolytic anemia - most require multiple blood transfusions and splenectomy Red/brown discoloration of teeth which fluoresce red under UV light

47
Q

Congenital Erythropoietic porphyria due to

A

deficiency in uroporphyrinogen III synthase see build up of reticulocytes since body in need of RBCs

48
Q

is there an effective treatment for PKU?

A

supplementation with PAH prove ineffectiveinfant and child pts with PKU keep to strict diet low in phenylalanine after normal neural development can relax dietary restrictions

49
Q

Oculocutaneous albinism results from . . . .

A

a deficiency of tyrosinase which converts Tyrosine to Melanin

50
Q

Phenotype of Oculocutaneous albinism?

A

no melanin production leads to lack of pigment in hair, skin, iris, and ocular fundus of patients

51
Q

What results from the lack of pigment seen in OCA?

A

leads to poor visual acuity, nystagmus (pendular eye movements) and underdevelopment of fovea

52
Q

What characterizes OCA type 1?

A

mutation within tyrosinase gene on chromosome 11qclassic albinism - no measurable tyrosinase activity

53
Q

What characterizes OCA type 2?

A

due to mutation in P gene (mouse homolog called pink eye) on chromosome 15q

54
Q

Newborns with Maple syrup urine disease present with?

A

first week of life with vomiting, alternating tone if left untreated, then leads to death within a few weeks treatment involves dietary restriction of intake of V, I and L

55
Q

What are some sources of oxidative damage?

A

infection - colds and flu Drugs - NSAIDS, quinolones, sulfa drugs, tylenol, drugs metabolized through liver, naphtalene (moth balls) and artifical food coloring Foods - fava beans and other legumes, sulfites, menthol-containing foods

56
Q

Acute oxidative damage in pt with G6PDD can lead to …

A

hemolytic anemia which presents with paleness, jaundice, dark urine, fatique, shortness of breath/rapid heart rate, splenomegaly

57
Q

G6PDD is genetically …

A

very diverse - more than 100 different mutations identified

58
Q

symptoms of Hereditary fructose intolerance

A

presentation age varies depends on when foods with fructose are introduced into diet minimal to severe - failure to thrive, vomiting, jaundice, seizures

59
Q

Von Gierke disease

A

glucose 6 phosphatase

60
Q

Cori disease

A

amylo-1,6 glucosidase ( debrancher enzyme)

61
Q

Anderson disease

A

glycogen brancher enzyme (synthesis enzyme) impairs ability to build storage

62
Q

Hepatic phosphorylase deficiency

A

multimeric enzyme complex with subunits coded for by autosomal and X linked genes

63
Q

How does Von Gierke disease present?

A

hepatomegaly (seen when glycogen stores cannot be broken down)hypoglycemia in infants presents as sweating, fast heart rate

64
Q

How does Cori disease present?

A

hepatomegaly muscle weakness

65
Q

How does Anderson disease present?

A

hypotonia, abnormal liver function within first year of life, progresses to liver failure quickly

66
Q

How does Hepatic phosphorylase deficiency present?

A

hepatomegaly hypoglycemia failure to thrive

67
Q

Which glycogen storage disease affects the liver and has no effective treatment?

A

Anderson disease

68
Q

Pompe disease

A

glycogen storage disease that affects muscle due to deficiency in lysosomal enzyme alpha 1,4 glucosidase which is necessary for glycogen breakdown

69
Q

McArdle Disease

A

due to deficiency in muscle phosphorylase necessary for breakdown of muscle glycogen during exercise

70
Q

symptoms of Pompe disease

A

presents in infancy with hypotonia, delay in gross motor milestones, due to muscle weakness, eventually leads to enlarged heart and death from cardiac failure within first 2 years no current treatment

71
Q

symptoms of McArdle

A

presents in adolescence with muscle cramps during exercise no effective treatmetn

Bonus exam (15 decks)

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