WorksheetsTopics in Genetic Counseling - Lysosomal Storage Diseases - I
Total questions: 12
Worksheet time: 6mins
What is the main function of the lysosome inside of the cell?
cell structure that produces ATP through oxidative phosphorylation
cell structure that has enzymes that breakdown macromolecules
cell structure that processes proteins for transport within the cell
cell structure responsible for producing proteins from mRNA
What is the collective incidence of lysosomal storage diseases?
1:70,000 - 1:100,000
1:7000 - 1:10,000
1:700 - 1:1000
1:700,000-1,000,000
Incidence is not able to be calculated due to rareness
What is the most common LSD?
Gaucher disease
Fabry disease
Krabbe disease
MPSI
MPSII
Most of the LSD's are autosomal recessive but which LSD's are X-linked?
MPSI, MPSII and MPSIV
MPSI, Hunter and Gaucher
Fabry, Danon (dom) and Hunter
Pompe, Gaucher and Fabry
Hunter, Danon (dom) and MPSIV
More than half of the LSD's are associated with...
Failure to thrive
Craniofacial malformations
Cardiac malfromations
CNS involvement
Hypotonia
The most common type of Gaucher diseease is...
Type 1
Type 2
Type 3
Perinatal-lethal
Cardiovascular
If you are thinking of ordering testing for Gaucher disease, one concern that you might have about the selected testing is...
high de novo frequency
mostly del/dup variants
presence of a pseudogene
multiple functional spliced variants
gene is near a chromosomal breakpoint
The most severe type of Gaucher disease is...
Type 1
Type 2
Type 3
Perinatal-lethal
Cardiovascular
For Fabry disease, which set of facts are true?
X-linked, adult onset
X-linked, childhood onset
Autosomal recessive, adult onset,
Autosomal recessive, childhood onset
Autosomal dominant, childhood onset
Some patients with Fabry disease may be considered pain-drug seeking because of what symptom?
Recurrent fever
Corneal whorls
Heat/cold intolerance
Acroparesthesia
Left ventricular myopathy
With regard to Pompe disease, which set of facts are true?
Autosomal dominant, encoded by GAA gene, usually fatal
Autosomal dominant, encoded by GBA gene, not fatal
Autosomal recessive, encoded by GAA gene, usually fatal
Autosomal recessive, encoded by GBA gene, not fatal
The hallmark symptom of infantile onset Pompe disease would be...
failure to thrive
sleep distrubances
hypotonia
cardiomegaly/cardiomyopathy
gait abnormalities
