IEM - glycolipids Flashcards
Which LSDs are X linked?
Fabry
Hunter
Gaucher
Beta-glucosidase (glucocerebrosidase) + Treatment
Adult onset
Big liver/spleen
Anemia/low Platelets
Tay Sachs
Beta hexosaminidase A
No treatment
Cherry red spot
Increased startle reflex
Normal liver / spleen
Fabry
X-linked
Alpha galactosidase + treatment
Angiokeratomas
Renal failure
Acroparesthesias (pain in palms and soles)
Pompe
Alpha glucosidase + treatment - more of a glycogen storage disease
Infant with profound weakness and hypertrophic CM
or
Adult with proximal muscles weakness and sleep apnea
Hunter
X linked
Iduronate sulfatase + treatment
Coarse appearing child, who is short, HAS HOARSE VOICE, frequent URI,
NO CORNEAL CLOUDING
Hurler
Alpha iduronidase + treatment Similar to Hunter but AR Coarse facies Hepatosplenomegaly Skeletal problems Corneal clouding
McArdle
Glycogen Phosphorylase
Muscle cramping after exercise - coffee colored urine after exercise
Do McCardle and Tay Sachs have treatment?
No
Cherry red spot with increased startle reflex
Tay sachs
Adolescent young male with acroparesthesias (pain in hands and feet) with fevers and bathing trunk rash
Fabry
Floppy infant with LVH (probably seen on an EKG)
Pompe
Gaucher Type I
Clinical presentation
Bony pain and big spleen
Gaucher Type I
Key features
HSPMG, anemia, thrombocytopenia
Gaucher Type I
enzyme defecit
Beta glucosidase
glucocerebrosidase
A 25 year old woman with a history of hepatosplenomegaly with splenectomy, bone pain, and livery biopsy showing foamy macrophages with accumulations of glucosylceremides
Gaucher
Pathology of LSDs
Usually gradual accumulation - not acute toxicity
Most LSDs are inherited in AR manner, two exceptions
Fabry
Hunter
Skeletal - erlenmeyer flask deformity
Gaucher type I
Mucopolysaccharidoses are inherited storage diseases caused by
defects in degradation of proteoglycans
13 month old with cardiomegaly and progressive muscle weakness - ECG with rapid conduction time and wide QRS (i.e. LVH) - skeletal muscle elevated glycogen
Pompe
Pompe enzyme
alpha glucosidase
18 year old
palms and sole pain
heat intolerance
clavicular fracture and myopia
fabry
fabry enzyme
alpha galactosidase in leukocytes
