Inborn Glycolipid Disorders

Question 1

Gaucher Dz T1

Answer 1

• AR
• Adult onset
• bony pain, HSM, anemia, thrombocytopenia, Erlenmeyer flask deformity of distal femur, “crumpled tissue paper” gaucher macrophage (filled with glucocerebroside)
• Deficient in Beta glucosidase (glucocerebrosidase)
• Tx –> Enzyme replacement tx

Question 2

Tay Sachs T1

Answer 2

• AR
• infantile
• blindness, sz, increased startle reflex, cherry red spot on macula
• Deficient in beta-hexosaminidase A enzyme
• No tx

Question 3

Fabry Dz

Answer 3

-XLR
-Presentation: pre-teen/teen with acroparesthesias (palms/sole pain), proteinuria, angiokeratomas (bathing suit distribution
or Adult with renal failure +others
-FHx of renal failure in men
-Deficient in Alpha-galactosidase
-Tx: ERT

Question 4

Pompe Dz

Answer 4

• AR
• Infant with profound m. weakness + Hypertrophic CM (LVH on ECG)
• Adult with proximal m. weakness and respiratory weakness (sleep apnea)
• Deficient in Alpha-glucosidase
• Tx: ERT

Question 5

Hunter

Answer 5

• XLR (men Hunt and need to see)
• kids with stunted growth, coarse facies, airway dz (frequent URIs), hoarse voice, NO CORNEAL CLOUDING
• deficient in iduronate sulfatase

Question 6

Hurler

Answer 6

• AR
• Looks like Hunter but more severe and girls can be affected and get CORNEAL CLOUDING
• Deficient in alpha iduronidase

Question 7

McArdle Dz

Answer 7

• AR
• muscle weakness and cramping (esp after exercise) and myogolbuinuria
• Deficient in glycogen phosphorylase