POMPE DISEASE Flashcards
1
Q
What is POMPE disease?
A
genetic disorder (autosomal recessive)
that leads to problems with breaking down glycogen
2
Q
How are the two groups of POMPE divided?
A
- age when symptoms started
- severity of condition
3
Q
What are the two groups of POMPE?
A
- Infantile-onset Pompe disease (IOPD) – when the disease appears within a
few months of birth - Late-onset Pompe disease (LOPD) – when the disease appears later in
childhood, adolescence, or adulthood.
4
Q
What causes POMPE disease?
A
- the GAA gene is not working
-prevents the cells from making enough of an
enzyme called acid alpha glucosidase - overall, cannot breakdown glycogen in lysomes via the enzymes
5
Q
WIth build up of glycogen, what damage does this cause?
A
to the heart
to the muscles
6
Q
Are both parents the carrier of the disease?
A
YES!
7
Q
What are some of the medical problems with IOPD?
A
- Weak sucking and swallowing muscles –> make eating difficult
- Overall muscle weakness and poor muscle tone –> can cause a “floppy”
appearance and problems with movement - weak breathing muscles
-heart problems (thicker)
8
Q
What is one difference of medical problems of LOPD compared to IOPD?
A
no heart problems!
9
Q
Is there a cure for POMPE?
A
no:(
10
Q
What is a possible best treatment for POMPE?
A
Enzyme Replacement Therapy –> would replace missing enzyme (acid alpha glucosidase)
11
Q
Lots of follow up and keeping in check with kiddos when having POMPE
A
TRUE
