Large Molecules Flashcards
(23 cards)
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
Only glycogen storage disease that is lysosomal
GSD type II
Pompe
Shortening of the PR interval on EKG
Pompe
GSD type II
Diagnosis can be made by fibroblast or buffy coat EM
Neuronal ceroid lipofuscinoses (NCL)
look for ceroid storage
Calcification of the adrenal glands
Wolman Disease
Lysosomal acid lipase deficiency
Liver failure
supranuclear gaze palsy (cant look up)
adult presentation with dementia and psychiatric symptoms
Niemann-Pick disease type C
Disorder of peroxisome biogenesis
normal VLCFA
HIGH phytanic acid
LOW plasmalogen
Rhizomelicchondrodysplasia type I
disorder of peroxisome biogenesis
HIGH VLCFA
HIGH Pristanic acid
LOW plasmalogen
Zellweger spectrum disorders
hepatomegelagy
hypoglycemia
doll-like facies
neutropenia, impaired neutrophil function
hyperuracemia, hyperlacticemia
GSD 1B
