IEM - glycolipids

Question 1

Which LSDs are X linked?

Answer 1

Fabry

Hunter

Question 2

Gaucher

Answer 2

Beta-glucosidase (glucocerebrosidase) + Treatment

Adult onset
Big liver/spleen
Anemia/low Platelets

Question 3

Tay Sachs

Answer 3

Beta hexosaminidase A
No treatment

Cherry red spot
Increased startle reflex
Normal liver / spleen

Question 4

Fabry

Answer 4

X-linked
Alpha galactosidase + treatment

Angiokeratomas
Renal failure
Acroparesthesias (pain in palms and soles)

Question 5

Pompe

Answer 5

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

Question 6

Hunter

Answer 6

X linked
Iduronate sulfatase + treatment
Coarse appearing child, who is short, HAS HOARSE VOICE, frequent URI,
NO CORNEAL CLOUDING

Question 7

Hurler

Answer 7

Alpha iduronidase + treatment
Similar to Hunter but AR
Coarse facies 
Hepatosplenomegaly 
Skeletal problems 
Corneal clouding

Question 8

McArdle

Answer 8

Glycogen Phosphorylase

Muscle cramping after exercise - coffee colored urine after exercise

Question 9

Do McCardle and Tay Sachs have treatment?

Answer 9

No

Question 10

Cherry red spot with increased startle reflex

Answer 10

Tay sachs

Question 11

Adolescent young male with acroparesthesias (pain in hands and feet) with fevers and bathing trunk rash

Answer 11

Fabry

Question 12

Floppy infant with LVH (probably seen on an EKG)

Answer 12

Pompe

Question 13

Gaucher Type I

Clinical presentation

Answer 13

Bony pain and big spleen

Question 14

Gaucher Type I

Key features

Answer 14

HSPMG, anemia, thrombocytopenia

Question 15

Gaucher Type I

enzyme defecit

Answer 15

Beta glucosidase

glucocerebrosidase

Question 16

A 25 year old woman with a history of hepatosplenomegaly with splenectomy, bone pain, and livery biopsy showing foamy macrophages with accumulations of glucosylceremides

Answer 16

Gaucher

Question 17

Pathology of LSDs

Answer 17

Usually gradual accumulation - not acute toxicity

Question 18

Most LSDs are inherited in AR manner, two exceptions

Answer 18

Fabry

Hunter

Question 19

Skeletal - erlenmeyer flask deformity

Answer 19

Gaucher type I

Question 20

Mucopolysaccharidoses are inherited storage diseases caused by

Answer 20

defects in degradation of proteoglycans

Question 21

13 month old with cardiomegaly and progressive muscle weakness - ECG with rapid conduction time and wide QRS (i.e. LVH) - skeletal muscle elevated glycogen

Answer 21

Pompe

Question 22

Pompe enzyme

Answer 22

alpha glucosidase

Question 23

18 year old
palms and sole pain
heat intolerance
clavicular fracture and myopia

Answer 23

fabry

Question 24

fabry enzyme

Answer 24

alpha galactosidase in leukocytes

Question 25

Lymphoma-esque

Answer 25

Gaucher

Question 26

Increased startle reflex

Answer 26

Tay sachs

Question 27

Tay sachs enzyme

Answer 27

Beta hexosaminidase A

Question 28

Acroparethesias and angiokeratomas

RENAL FAILURE

Answer 28

Fabry

Question 29

Fabry enzyme

Answer 29

alpha galactosidase

Question 30

Infantile
severe LVH
Adult - respiratory weakness and sleep apnea

Answer 30

Pompe

Question 31

Pompe enzyme

Answer 31

alpha glucosidase

Question 32

Coarse facies / hoarse voice / without corneal clouding

Answer 32

Hunters (X)

Question 33

Coarse facies / horase voice / with corneal clouding

Answer 33

Hurler (AR)

Question 34

Muscle weakness and brown urine post exercise

Answer 34

McArdle
Glycogen phosphorlyase

this and tay-sachs only supportive care

Question 35

Iduronate sulfatase

Answer 35

Hunter

Question 36

McArdle complication

Answer 36

Acute kidney injury - from rhabdo