Glycolipid Dz Flashcards
Glycolipid Dz are all ____ except ____ ?
all AR except Fabry (females delayed) and Hunter (females no dz) that are XL
Path due to …
Usually due to a missing or malfxning enzyme
Gradual accumulation, so dz is usually progressive
Not acutely toxic
Cherry red spot and startle reflex?
Tay Sachs (Ashkenazi Jews higher risk - also Gaucher)
Young male with pain in hands/feet, fever, bathing trunk rash? (acroparatheisas, angiokeratomas)
Fabry
Floppy infant with LVH on ECG?
Pompe
What is a glycolipid?
Uses?
Lipid + carb
Cell signaling, membranes, energy source
Tx options
Supportive, surgery, BMT
ENZYME REPLACEMENT
substrate inhib, chaperone tx
Lysosomal storage dz (LSD) - path
absence of hydrolases –> swollen lysosomes –> swollen cell –> cell dysfxn –> organ dysfxn
so you get swollen and englarged organs (except brain - degenerates)
Gaucher Type 1
BETA GLUCOSIDASE
Adult onset, bony pain
Hepatosplenomegaly
Anemia/low PLT
CRUMPLED TISSUE PAPER lipid accumulation in cell
Gaucher cells in bone marrow (macrophages)
Erlenmeyer flask deformity of femur (x-ray)
No CNS involvement
THERE IS TREATMENT
Storage dz: Skull
macrocephaly, cognitive regression
Storage dz: Face
facial thickening, coarseness (all skin)
Storage dz: Eyes
corneal clouding, cherry red spot
Storage dz: HEENT
macroglossia, sleep apnea
Storage dz: Heart
cardiomyopathy
Storage dz: Liver/spleen
hepatosplenomegaly (protuberant belly)
Storage dz: Kidneys
proteinuria/renal failure (THINK FABRY)
Storage dz: skeletal
dyostosis multiplex (vertebra beaking on X-ray), joint stiffness short stature
Tay Sachs Type I
Infantile pres Blindness/will die/mainly CNS Beta-hexosaminidase A Cherry red spot (pallor surround red on eye) Incr startle refles NORMAL liver/spleen
Fabry
XL!! females delayed dz RENAL FAILURE, death at 4th decade Alpha-galactosidase Angiokeratomas (bathing trunk rash) Renal failure Acroparesthesis (aplsma nd soles pain), normal IQ
Niemann Pick A/B
Sphingomyelinase
Askenazi risk higher
BIG hepatosplenomegaly for A/B type
Pompe
Alpha-glucosidae (HAS TREATMENT)
Infant with profound wekaness and hypertrophic CM
Adult with proximal muscle weakness and sleep apnea
Hunter
XL!!! Females don't get it! (men are hunters) Iduronate sulfatase (HAS TREATMENT) URIs, NO corneal clouding, short, coasrse, hoarse, learning probs
Hurler
apha-iduronidase (HAS TREATMENT)
Like hunter’s but can occur in grisl
McArdle
Glycogen phosphorylase
Muscle cramping after exercise, myogolbuinuria
