Glycolipid Disorders

Question 1

Gaucher Type 1

Answer 1

AR. 1:855 Ashkenazi Jews.
Beta glucosidase (gluco-cerebrosidase) +Treatment
 Adult onset
 Big liver/spleen
 Anemia/low platelets
 Erlenmeyer flask deformity of femur (on X-ray)
 “Crumpled tissue paper” lipid accumulation in cell

Question 2

Tay Sachs Type 1

Answer 2

AR. Infantile. Ashkenazi Jews.
Beta-hexosaminidase A
 Cherry red spot (classic)
 Increased startle reflex
 Normal liver/spleen

Question 3

Fabry

Answer 3

XL. Females have delayed disease. Alpha galactosidase + Treatment. Angiokeratomas (bathing trunk distribution), Renal Failure
Acroparesthesias (pain in palms and soles), Normal IQ

Question 4

Niemann- Pick A/B

Answer 4

AR. Type A: severe with CNS vs Type B: non-neuronopathic. Type C: early persistant hepatosplenomegaly
Sphingomyelinase
 Supranuclear gaze palsy  Cherry red spot
BIG hepatosplenomegaly

Question 5

Pompe Disease

Answer 5

AR. Alpha-glucosidase +Treatment
Infant with profound weakness and hypertrophic CM or
 Adult with proximal muscle weakness and sleep apnea
 More like a glycogen storage disorder

Question 6

Hunter

Answer 6

XL. Iduronate sulfatase +Treatment
 Coarse-appearing child, who is short, has hoarse voice, frequent URIs and some learning problems; NO corneal clouding
 Remember it’s X-linked!
macroglossia

Question 7

Hurler

Answer 7

AR. alpha iduronidase +Treatment

Similar to Hunter (can occur in girls); Coarse facies, big liver/spleen, major skeletal problems, corneal clouding