A member asked:

Do you know if adult pompe disease is caused by a sudden mutation or a long build up of glycogen?

3 doctors weighed in across 2 answers

Long build up: I'm not a geneticist; and, there are good references on this subject easily available on the net. However, a quick answer is long build-up. The disease is viewed as constitutional (born-in) and not a later development of a "sudden mutation". If you are really interested, do your homework on the subject by looking at NIH and other sites.

Answered 7/27/2014

3.9k views

Thank
Dr. Heidi Fowler answered

Specializes in Psychiatry

Hereditary: Pompe Disease is a rare genetic / hereditary disorder (1 in 40,000 births) in which an enzyme called acid alpha-glucosidase either doesn't function correctly or there is too little of it in lysosomes. There can be gradations -so that glycogen may build up more quickly or more slowly & it may show up in a baby or later in adulthood.

Answered 9/6/2020

46 views

Thank

Related Questions

A member asked:

How to diagnose glycogen disorder in baby?

2 doctors weighed in across 2 answers

A member asked:

How is glycogen used during exercise?

A doctor has provided 1 answer