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DEMS 3 > Glycolipid Dz > Flashcards

Glycolipid Dz Flashcards

1
Q

Glycolipid Dz are all ____ except ____ ?

A

all AR except Fabry (females delayed) and Hunter (females no dz) that are XL

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2
Q

Path due to …

A

Usually due to a missing or malfxning enzyme
Gradual accumulation, so dz is usually progressive
Not acutely toxic

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3
Q

Cherry red spot and startle reflex?

A

Tay Sachs (Ashkenazi Jews higher risk - also Gaucher)

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4
Q

Young male with pain in hands/feet, fever, bathing trunk rash? (acroparatheisas, angiokeratomas)

A

Fabry

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5
Q

Floppy infant with LVH on ECG?

A

Pompe

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6
Q

What is a glycolipid?

Uses?

A

Lipid + carb

Cell signaling, membranes, energy source

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7
Q

Tx options

A

Supportive, surgery, BMT
ENZYME REPLACEMENT
substrate inhib, chaperone tx

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8
Q

Lysosomal storage dz (LSD) - path

A

absence of hydrolases –> swollen lysosomes –> swollen cell –> cell dysfxn –> organ dysfxn
so you get swollen and englarged organs (except brain - degenerates)

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9
Q

Gaucher Type 1

A

BETA GLUCOSIDASE
Adult onset, bony pain
Hepatosplenomegaly
Anemia/low PLT
CRUMPLED TISSUE PAPER lipid accumulation in cell
Gaucher cells in bone marrow (macrophages)
Erlenmeyer flask deformity of femur (x-ray)
No CNS involvement
THERE IS TREATMENT

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10
Q

Storage dz: Skull

A

macrocephaly, cognitive regression

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11
Q

Storage dz: Face

A

facial thickening, coarseness (all skin)

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12
Q

Storage dz: Eyes

A

corneal clouding, cherry red spot

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13
Q

Storage dz: HEENT

A

macroglossia, sleep apnea

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14
Q

Storage dz: Heart

A

cardiomyopathy

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15
Q

Storage dz: Liver/spleen

A

hepatosplenomegaly (protuberant belly)

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16
Q

Storage dz: Kidneys

A

proteinuria/renal failure (THINK FABRY)

17
Q

Storage dz: skeletal

A

dyostosis multiplex (vertebra beaking on X-ray), joint stiffness short stature

18
Q

Tay Sachs Type I

A 
Infantile pres
Blindness/will die/mainly CNS
Beta-hexosaminidase A
Cherry red spot (pallor surround red on eye)
Incr startle refles
NORMAL liver/spleen
19
Q

Fabry

A 
XL!! females delayed dz
RENAL FAILURE, death at 4th decade
Alpha-galactosidase
Angiokeratomas (bathing trunk rash)
Renal failure
Acroparesthesis (aplsma nd soles pain), normal IQ
20
Q

Niemann Pick A/B

A

Sphingomyelinase
Askenazi risk higher
BIG hepatosplenomegaly for A/B type

21
Q

Pompe

A

Alpha-glucosidae (HAS TREATMENT)
Infant with profound wekaness and hypertrophic CM
Adult with proximal muscle weakness and sleep apnea

22
Q

Hunter

A 
XL!!! Females don't get it! (men are hunters)
Iduronate sulfatase (HAS TREATMENT)
URIs, NO corneal clouding, short, coasrse, hoarse, learning probs
23
Q

Hurler

A

apha-iduronidase (HAS TREATMENT)

Like hunter’s but can occur in grisl

24
Q

McArdle

A

Glycogen phosphorylase

Muscle cramping after exercise, myogolbuinuria

25
Q

Enzyme treatment available?

A

Gaucher, Fabry, Pompe, Hunter, Hurler

DEMS 3 (11 decks)

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