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DEMS unit 3 > Metabolic Disorders key words > Flashcards

Metabolic Disorders key words Flashcards

1
Q

Coarse facial features, macroglossia, short stature

A

storage disease

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2
Q

Ernlemeyer Flap (looks like erlenmeyer flask)

A

Gaucher Disease Type I

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3
Q

cherry red spot in eye

A

Tay Sachs Disease

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4
Q

hepatosplenomegaly, ,wplenectomy, bone/joint pain with foamy macrophages

A

Gaucher Disease

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5
Q

Mucopolysaccharidoses are inherited storage disease caused by

A

defects in degradation of proteoglycans (not insufficient proteolytic enzymes)

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6
Q

infant died with progressive muscle weakness, cardiac involvement (cardiomyopathy)

A

Pompe disease

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7
Q

proteinuria and acroparasthesias

A

Fabry disease

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8
Q

deficient enzyme in Fabry disease

A

alpha-galactosidase A

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9
Q

enzyme deficient in Gaucher disease

A

glucocerebrosidase (B-glucosidase)

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10
Q

enzyme deficient in Niemann-Pick dz

A

sphingomyelinase

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11
Q

enzyme deficient in Tay Sachs

A

Hexosaminidase A

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12
Q

enzyme deficient in Krabbe disease

A

Galactocerebrosidase

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13
Q

enzyme deficient in Metachromatic leukodystrophy

A

arylsulfatase A

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14
Q

enzyme deficient in Hurler syndrome

A

alpha-L-iduronidase

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15
Q

enzyme deficient in Hunter syndrome

A

Iduronate sulfatase

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16
Q

how are most lysosomal storage disorders inherited

A

autosomal recessive, except Fabry and Hunter (X-linked);

also a new Danon Disease – super rare/new and unlikely on USMLE

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17
Q

most common lysosomal storage disorder

A

Gaucher disease

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18
Q

which population has increased incidence of Tay Sachs, Niemann-Pick, and some Gaucher disease forms

A

Ashkenazi Jews

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19
Q

adult onset, big liver/spleen, anemia/low platelets

A

Gaucher Type I

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20
Q

cherry red spot (classic), increased startle reflex, normal liver/spleen

A

Tay Sachs type I

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21
Q

Angiokeratomas, Renal failure, acroparesthesias, normal IQ

A

Fabry

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22
Q

Gaucher Type I treatment

A

enzyme replacement and substrate inhibition- beta glucosidase (glucocerebrosidase)

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23
Q

Fabry Disease Treatment

A

FDA approved enzyme replacement and substrate inhibition

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24
Q

adult male with angiokeratomas + acroparesthesias +fam hx renal failure in males

A

Fabry

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25
Q

Supranuclear gaze palsy (vertical gaze palsy), cherry red spot, BIG hepatosplenomegaly

A

Niemann-Pick Type I

26
Q

Does Tay Sachs have enlarged liver/spleen

A

NO

27
Q

Which storage diseases have enlarged liver/spleen

A

Gaucher type I, Hunter, Hurler, Sandhoff, Niemann-Pick

28
Q

Infant with profound weakness and hypertrophic cardiomyopathy

A

Pompe Disease

29
Q

Pompe treatment

A

FDA approved enzyme replacement and substrate inhibition

30
Q

Adult with proximal muscle weakness and slep apnea

A

Pompe disease

31
Q

Coarse-appearing child who is short, hoarse voice, frequent URIs and some learning problems; NO corneal clouding

A

Hunter

32
Q

coarse facies, big liver/spleen, major skeletal problems, corneal clouding

A

Hurler disease

33
Q

Hunter treatment

A

enzyme replacement and substrate inhibition (Iduronate sulfatase)

34
Q

Hurler treatment

A

FDA approved enzyme replacement and substrate inhibition (alpha iduronidase)

35
Q

Muscle cramping after exercise, myoglobinuria (coffee colored urine after exercise); normal cognition, chronic condition

A

McArdle Disease

36
Q

enzyme defect in McArdle Disease

A

Glycogen phosphorylase

37
Q

Lysosomes

A

garbage (or recycling) centers in cells that are acidic, contain about 50 hydrolase enzymes, that break down macromolecules into smaller components

38
Q

Lysosomal Storage Diseases (LSDs)

A

defects in lysosomal function present and one or more molecules can’t be properly degraded and/or processed. Usually absence of one or more lysosomal enzymes

undigested glycolipids and extracellular components accumulate

39
Q

how do storage disorders manifest clinically

A

increase in mass of affected tissues and organs. When brain affected (often the case), you get neurodegeneration

different presentations driven partly by defective enzyme and materials accumulating in which organs.

40
Q

are LSDs more acute or chronic

A

chronic with gradual accumulation slowly leading to storage and dysfunction; generally present less acutely than other metabolic conditions

41
Q

Which diseases have enzyme replacement available

A

Fabry, Gaucher, Hurler (MPSI), Hunter (MPSII), Maroteaux-Lamy (MPS IV), Pompe

42
Q

LSD therapy options

A

supportie, surgery, bone marrow transplant, enzyme replcaement, substrate inhibition, chaperone therapy (stabilize damaged enzyme)

43
Q

facial coarseness

A

facial thickening, looks a bit swollen

44
Q

brain sxs

A

cognitive function, behavior, loss of skills

45
Q

skin sxs

A

coarseness, thickness, hirsutism, angiokeratoma (Fabry)

46
Q

Skull/brain sxs

A

macrocephaly, hydrocephalus, cognitive regression, ataxia, seizures

47
Q

hearing sxs

A

hearing loss from otitis media/Eustachian tube dysfunction

48
Q

Ear/Nose/Throat sxs

A

macroglossia, thickened vocal cords, nasal congestion, sleep apnea (complication)

49
Q

heart sxs

A

cardiomyopathy, arrhythmia, thickened heart valves

50
Q

lungs sxs

A

airway narrowing, pulmonary fibrosis

51
Q

Liver sxs

A

hepatosplenomegaly with typically preserved hepatic function

52
Q

GI sxs

A

constipation/diarrhea

53
Q

Kidney sxs

A

progressive renal failure adn proteinuria (fabry)

54
Q

skeletal sxs

A

dysostosis multiplex, joint stiffness, short stature

55
Q

muscle

A

hypotonia, myoclonic jerks, spasticity, weak

56
Q

age of onset for Gaucher

A

adult

57
Q

age of onset for Tay Sachs type I

A

infantile/early, early childhood

58
Q

Fabry age of onset

A

pre-tenn/teen wiht neuro findings or adult with renal failure or older adult with left ventricular hypertrophy or stroke

59
Q

Tay Sachs treatment

A

supportive

60
Q

Pompe treatment

A

alglucosidase alpha

61
Q

Fabry treatment

A

agalsidase beta

DEMS unit 3 (9 decks)

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