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Genetic Disorders - Lysosomal Storage Diseases (*Presentation of Lysosomal…
Genetic Disorders - Lysosomal Storage Diseases
*Presentation of Lysosomal SDs
failure to thrive
*Inclusion cell = I cell Lysosomal storage disease
Lysosomal Storage Diseases
failure to thrive
Clinical Cases
Clinical Case
Clinical Case
Notes
:
note that
*Summary
*Hunterss and Hurler's Disease
splecial types of Lysosomal SDs
both accumulate dermatan sulfate
--> Hurlers = L- Iduronate sulfatase
--> Hunters =___ Iduronate sulfatase
*Hurler's Disease
splecial types of Lysosomal SDs
Enzymes and accumulation
both accumulate dermatan sulfate
--> Hurlers = L- Iduronate sulfatase
--> Hunters =___ Iduronate sulfatase
presentation
developmental delay
corneal clouding
HURLERS DISEASE
prototype for HUNTERS DISEASE
*Hurler's Disease
splecial types of Lysosomal SDs
HUNTERS = X linked
Enzymes and accumulation
both accumulate dermatan sulfate
--> Hurlers = L- Iduronate sulfatase
--> Hunters =___ Iduronate sulfatase
presentation
HURLERS +
--> NO corneal clouding
--> added agression = HUNTERS
X marks the spot in aggressive HUNTERS
x linked
rest the GUN against the DERMATAN of your cheek
--> dermatin sulfate accumulates in HUNTERS and HURLERS
HUNTERS have NO CORNEAL CLOUDING like Hurlers do
*Glucocerebrocide
MAIN
Shingolipid in lysosomes
.
*Gaucher's Disease
MOST COMMON Lysosomal SD
Enzyme affected/deficient
glucocerebrosidase
Presentation
SEVERE
NOTES
note that since Gaucher's Disease is MOST COMMON
--> they can do prenatal screen for Gaucher's LSD
Gaucher Cells =
2 more items...
*Ceramide
FINAL
Shingolipid in lysosomes
--> converging point for all three paths
--> including major Tay Sachs / Gaucher Glucocerebrocide
.
*Nieman Pick Disease
Lysosomal SD
Enzyme affected/deficient
alpha
Presentation
SEVERE
2 more items...
Blank
.
*Krabbe Disease
Lysosomal SD
Enzyme affected/deficient
glucocerebrosidase
Presentation
SEVERE
2 more items...
Glactocerebrocide
lesser brain converging onto the Ceramide FINAL shyringolipid
1 more item...
.
*Fabri Disease
Enzyme affected/deficient
alpha - GALACT - A deficiency
Presentation
SEVERE pain in palms and soles
angiokeratomas
telangectasias
GI non specific symptoms
*Globo...
side path towards glucocerebrocide
GM3 ganglioside
.
*Tay-Sach's Disease
Lysosomal SD
Enzyme affected/deficient
alpha
Presentation
SEVERE
GM2 ganglioside
Lysosomal Storage Diseases
3 main diseases
Tay-Sachs
Gauchers
Nieman Picks
2 things to focus on
CNS
symptoms
--> "BLUE CNS symptoms in diagram"
HSM
= hepatosplenomegaly
--> "RED HSM symptoms in diagram"
Tay- Sachs
"WEIRD Lysosomal SD"
has "whirled membrane" = onion histology
= 1$
--> second blank is WEIRD
--> so
= 1$
--> chromosome 15
