Large Molecules Flashcards
Which lysosomal storage disorders do not have CNS involement? (Normal intelligance)
- Gaucher type I
- Neiman Pick, B
- Fabry
- Morquio A
- Morquio B
- Maroteaux -Lamy
Most lysosomal storage diseases are AR, which are known to be X-linked?
- Fabry
- MPS II
- Danon Disease (LAMP2)
Within the group of mucopolysaccharoidosis , which subtype is known mostly for behavioral disturbances and dementia
- MPS III
•Classic, very severe, proximal pointing,
wide [expanded]/short metacarpals & phalanges
•thin cortices
These are common findings in what group of lysosomal starage disease
Mucopolysaccharoidosis
X-linked recessive
No Corneal cloudning
dermal pebblingDysistosis multiplex
name the condition
Hunter Syndrome
MPS II
Onset of developmental delay 2-6 yo
aggresive behaviours
trouble sleeping
developmental regression and progressive decline
MPS type?
Mucopolysaccharidosis type III
Normal CNS
short stature and severe bone disease
pectus carinatum
C spine instability–> intellectual disability
MPS type IV
Morquio A and B
Similar enzyme affected as MPS IV (type B)
GM 1
beta-galactosidase
enzyme affected in MPS VI (Maroteaux-Lamay)
substance found in urine
name of ERT available
Enzyme: Arylsulfatase B deficiency
Urine: Dermatan Sulfate
ERT: Naglazyme
2 clinical features that differ MPS from oligosaccharoidosis
- cherry red spot
- angiokeratomas
Erlenmeyer flask deformity of the femur
hepatosplenomegely
thrombocytopenia
Gaucher type I
Angiokeratomas
Peripheral neuropathy
Anhydrosis
End Stage: renal failure, Strokes, Cardiomyopathy
Fabry Disease
Females have chacteristic spoke wheel pattern to cornea
Fabry Disease in hemizygous females
females can only be diagnosed through gene testing: GLA
HEX A affected
polypeptide : alpha-subunit
Isozyme:subunits: HEX S (alpha-alpha)
Name disease: ?
Tay-Sachs
Extreme irritability
spasticity and developmental delay by 6 months
progressing to decerebrate state
neuropsychiatric disease in adults
Krabbe Disease
Galactocerebrosidase deficiency
