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DEMS III > glycolipid disorders > Flashcards

glycolipid disorders Flashcards

1
Q

What are lysosomes

A

Garbage centers in cells that are acidic, contain about 50 hydrolase enzymes that break down macromolecules into smaller components

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2
Q

How are hydrolases targeted to the lysosome

A

Mannose-6-phosphate on surface of hydrolases bind to M6P receptors

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3
Q

what is a lysosomal storage disease

A

Occurs when lysosomal enzyme is missing/deficient resulting in substrate accumulation in various organs

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4
Q

Signs of LSD in brain vs other organs

A

brain: neurodegeneration. Other organs: increase in mass

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5
Q

Inheritance pattern of MOST lysosomal storage diseases

A

autosomal recessive

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6
Q

List the X-linked lysosomal storage diseases

A
  1. Fabry disease (alpha-galactosidase). 2. Hunter syndrome (iduronate-2-sulfatase). 3. Danon disease (lysosomal associated membrane protein 2)
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7
Q

What is the main problem in lysosomal storage diseases

A

Gradual accumulation that slowly leads to storage and dysfunction. The accumulating substrate is usually not toxic

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8
Q

time course of lysosomal storage diseases

A

Progressive disease that present less acutely than many other metabolic conditions

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9
Q

Symptoms of LSD in brain

A

macrocephaly, cognitive regression, seizures, ataxia

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10
Q

Symptoms of LSD in eyes

A

corneal clouding, cherry red spot in retina (Tay Sachs)

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11
Q

Symptoms of LSD in ear/nose/throat

A

macroglossia, sleep apnea

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12
Q

Symptoms of LSD in liver

A

hepatosplenomegaly- can be massive, with protuberant belly. Typically does not lead to LFT abnormalities

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13
Q

Symptoms of LSD in kidneys

A

Progressive renal failure and proteinuria (Fabry disease)

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14
Q

Symptoms of LSD in skeletal system

A

dysostosis multiplex (vertebral breaking, abnormal bony structure on x ray), joint stiffness, short stature

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15
Q

Symptoms of LSD in skin

A

coarseness/thickening

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16
Q

Gaucher type 1 presentation

A

Adult onset and increased incidence in Ashkenazi jews- fatigue, bone pain, hepatosplenomegaly

17
Q

Gaucher type 1 labs/ histology

A

anmia, thrombocytopenia, gaucher cells (macrophages) in bone marrow

18
Q

gaucher type 1 imaging

A

avascular necrosis in bones, erlenmeye flask deformity (x ray of distal femur)

19
Q

Gaucher type 1 enzyme deficiency and treatment

A

Beta glucosidase (aka glucocerebrosidase) deficiency results in build up of glucosylceramides. Treated with imiglucerase, but pts will not die from this dz usually even if untreated

20
Q

Tay Sachs type 1 presentation

A

infantile or early childhood. Increased in Ashkenzi jews. Blindness, seizures, increased startle reflex, mental/motor deterioration.

21
Q

Tay Sachs type 1 exam/ histology

A

Cherry red spot in eye Lipid loaded cells

22
Q

Tay Sachs enzyme deficiency and treatment

A

Beta-hexosaminidase A deficiency. Treatment is supprtive and pts will likely die

23
Q

Fabry disease presentation

A

Pre-teen/teen w/ acroparathesias or in adult with renal failure/ angiokeratomas or older adult with left ventricular hypertrophy or stroke.

24
Q

Fabry disease clinical sx

A

acroparesthesia (pain in palms/soles, especially with fevers), dark red angiokeratomas in bathing suit distribution, LVH/stroke, proteinuria and renal failure

25
Q

family history in Fabry disease

A

renal failure in males

26
Q

Fabry disease enzyme deficiency and treatment

A

Alpha-galactosidase. Treated with agalsidase beta

27
Q

Pompe disease presentation

A

Infantile: present at 3-6 months; dead at 1 year (w/o Rx). Childhood: not likely tested on. Adult: slowly progressive muscle weakness

28
Q

Pompe disease clinical sx

A

Infant with progressive muscle weakness (floppy) and LVH. Adult with proximal muscle weakness and respiratory weakness (sleep apnea)

29
Q

Pompe disease labs/imaging

A

Elevated CK; glycogen on muscle biopsy

30
Q

Pompe disease enzyme deficiency and treatment

A

alpha-glucosidase deficiency resulting in elevated glycogen. Treated with alglucosidase alfa

31
Q

Hunter disease presentation

A

childhood- coarse facies, airway dz, ear infection, NO corneal clouding, hearing loss

32
Q

Hunter disease enzyme deficiency and treatment

A

iduronate sulfatase. Treatment: idursulfase

33
Q

Hurler syndrome presentation

A

childhood- coarse facies, airway dz, ear infections, corneal clouding, hearing loss

34
Q

Hurler syndrome enzyme deficiency and treatment

A

alpha iduronidase. Treatment: iaronidase

35
Q

mucopolysaccharidoses are caused by

A

defects in degradation of proteoglycans

36
Q

McArdle disease presentation

A

adults- muscle weakness and cramping, often exercise related cramping and myogolbuinuria (coffee colred urine after exercise)

37
Q

McArdle disease labs

A

high CK

38
Q

McArdle disease enzyme deficiency and treatment

A

glycogen phosphorylase- treated with support

DEMS III (16 decks)

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