lysosomal storage diseases

Question 1

metachromatic leukodystrophy

findings
def enzyme
buildup

Answer 1

central and periph edemyelination with ataxia, dementia

arylsuflatase A

cerberoside sulfate

leuk dumphy, walks side to side bc hes arrogant

Question 2

niean pick findings

Answer 2

progressive neurodegen

HSM

foam cells (lipid-laden macrophages)

cherry red spot on macula

Question 3

enzyme def: a galactosidase A

buildup of what

inheritance

Answer 3

fabry

ceramide trihexoside

XR

the galaxy side is farbircated
try the ceramide

Question 4

FABRY mneonmic

Answer 4

Foam cells/febrile
A galactosidase A/angiokeratomas
Burning pain in hands and feet
Renal failure
Y chrom so X linked

Question 5

hurler syndrome findings

enzyme def

and buildup

and inheritance

Answer 5

dev delay, gargoylism, airway obstruction, corneal clouding, HSM

a-l-iduronidase

heparan sulfate
dermatan sulfate

can see the gargolyes face in HD

AR

Question 6

findings in tay sachs

Answer 6

progressive neurodegen
chery red spot
lysosomes with onion skin, no hsm

taylor loves eating onions in the G2 gang

Question 7

enzyme def: glucocerebrosidase

buildup of what

inheritance

Answer 7

glucocerebrosidase

glucocerebroside

AR

putting glucose in my cerebrum while i chill on the Gouch and watch TV

Question 8

hunter syndrome

findings, enzyme def, buildup

inheritance

Answer 8

mild hurler + aggressive, no corneal clouding

iduronate sulfatase

HD hunting

heparin and dermatan sulfate

XR

Question 9

triad of episodic peripheral neuropathy, angiokeratomas, hypohidrosis

late: progressive renal failure, cardiovascular disease

Answer 9

fabry

Question 10

HSM, pancytopenia, osteoporosis, aseptic necrosis of femur, bone crisis

Answer 10

gaucher

Question 11

globoid cells, peripheral nuerotaphty, developmental delay

what disease, what def enzyme and buildup

Answer 11

krabbe

galactocerebrosidase
GCB psychosine

krabs going psycho

krabby from putting so much glucose in my cereberum