Inborn Errors: Glycolipid Disorders

Question 1

Most lysosomal storage disorders are autosomal recessive. There are three exceptions, however: ______________.

Answer 1

Fabry (XLD), Hunter (XLR) –men hunt, get it? – and Danon (XLD)

Question 2

Clinically, “cherry-red spots” in the eye are indicative of ____________.

Answer 2

Tay-Sachs

Question 3

A patient presents with burning of the hands and feet during fever. What is this symptom called and what disease does it represent?

Answer 3

Acroparesthesia; Fabry

Question 4

What enzyme is defective in a patient presenting with an LSD and proteinuria?

Answer 4

Alpha-galactosidase (being Fabry)

Question 5

Neurologic symptoms are not ______________.

Answer 5

specific to LSDs

Question 6

The histologic buzzword for Gaucher is _____________.

Answer 6

“crumpled tissue paper” in a macrophage

Question 7

Looking at the face of someone with a lysosomal storage disorder, you might pick up on these findings: ________________.

Answer 7

macroglossia, coarseness (full lips and flushed skin), gingival hypertrophy

Question 8

The Erlenmeyer-flask-shaped femur is indicative of _______________.

Answer 8

Gaucher

Question 9

Angiokeratomas present in which condition?

Answer 9

Fabry

Question 10

What is the “cherry-red spot” present in Tay-Sachs?

Answer 10

It is an accumulation of lipids in the neurons surrounding the macula. The excess lipid makes the surrounding area look white, so the center looks cherry-red.

Question 11

___________ are acidic, hydrolase-containing organelles.

Answer 11

Lysosomes

Question 12

What molecule serves as a signal for enzymes to be moved into lysosomes?

Answer 12

Mannose 6-phosphate

Question 13

Proteinuria is found in which LSD?

Answer 13

Fabry (alpha-galactosidase)

Question 14

List the inheritance pattern, impaired enzyme, organs affected, and treatment/prognosis of Gaucher.

Answer 14

IP: AR
Enzyme: beta-glucosidase (aka glucocerebrosidase)
Organs: liver (hepatomegaly), spleen (splenomegaly), bone (Erlenmeyer-flask femurs)
Treatment/prognosis: enzyme replacement; will live normal life

Question 15

List the inheritance pattern, impaired enzyme, organs affected, and treatment/prognosis of Tay-Sachs.

Answer 15

IP: AR
Enzyme: beta-hexosaminidase
Organs: eyes (“cherry-red” spot), brain (CNS impairment)
Treatment/prognosis: no treatment; will die

Question 16

List the inheritance pattern, impaired enzyme, organs affected, and treatment/prognosis of Fabry.

Answer 16

IP: XLD
Enzyme: alpha-galactosidase
Organs: kidneys (renal failure), heart (restrictive cardiomyopathy), eyes (“whorl” corneas), skin (angiokeratomas), acroparesthesia (painful tingling/warmth of hands)
Treatment/prognosis: enzyme replacement; fatal around 40 without

Question 17

List the inheritance pattern, impaired enzyme, organs affected, and treatment/prognosis of Hunter.

Answer 17

IP: XLR
Enzyme: iduronate sulfatase
Organs:
Treatment/prognosis: enzyme replacement

Question 18

List the inheritance pattern, impaired enzyme, organs affected, and treatment/prognosis of Hurler.

Answer 18

IP: AR
Enzyme: alpha-iduronidase
Organs: tongue (macroglossia), CNS, vocal cords (hoarse voice!!)
Treatment/prognosis: enzyme replacement; fatal without

Question 19

List the inheritance pattern, impaired enzyme, organs affected, and treatment/prognosis of McArdle.

Answer 19

IP: AR
Enzyme: glycogen phosphorylase
Organs: muscles (cramping after exercise), GU (myoglobinuria after exercise)
Treatment/prognosis: sucrose with exercise

Question 20

List the inheritance pattern, impaired enzyme, organs affected, and treatment/prognosis of Pompe.

Answer 20

IP: AR
Enzyme: alpha-1,4-glucosidase
Organs: heart (cardiomyopathy), muscle (weakness with exercise)
Treatment/prognosis: enzyme replacement; fatal without