Inborn Errors: Glycolipid Disorders Flashcards Preview

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Flashcards in Inborn Errors: Glycolipid Disorders Deck (20):
1

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

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

2

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

Tay-Sachs

3

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

Acroparesthesia; Fabry

4

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

Alpha-galactosidase (being Fabry)

5

Neurologic symptoms are not ______________.

specific to LSDs

6

The histologic buzzword for Gaucher is _____________.

"crumpled tissue paper" in a macrophage

7

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

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

8

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

Gaucher

9

Angiokeratomas present in which condition?

Fabry

10

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

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.

11

___________ are acidic, hydrolase-containing organelles.

Lysosomes

12

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

Mannose 6-phosphate

13

Proteinuria is found in which LSD?

Fabry (alpha-galactosidase)

14

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

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

15

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

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

16

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

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

17

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

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

18

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

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

19

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

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

20

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

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

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