Topics in Genetic Counseling - Lysosomal Storage Diseases - I

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

Answer explanation

This is a critical boards question - Gaucher is at 14% of all LSD's

MPSI - 9%, MPS - 6%, Fabry - 7%, Pompe - 5%

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

Answer explanation

This is another boards knowledge question!

More than half of the LSD's are associated with...

• Failure to thrive

• Craniofacial malformations

• Cardiac malfromations

• CNS involvement

• Hypotonia

Answer explanation

ERT's cannot help with CNS involved aspects of LSDs

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

Answer explanation

Usually lethal by age 2-3 years

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

Answer explanation

Pain feels like pins and needles pricking.