1) Ultrasound Scans
An
abdominal ultrasound scan is used to assess and monitor the size of the liver and kidneys and to detect possible hepatic adenomas (uncommon benign epithelial liver tumors). This is a painless test which involves the
use of gel on the abdomen and a scanning probe over the surface of your abdomen.
The high frequency sound wave produces an image of the internal abdomen. This
is similar to the ultrasound scan that a pregnant woman does during her
pregnancy check-up.
2) Liver Biopsy
A sample of tissue is taken either from the muscles or from liver
and sent to the laboratory for testing and examination under the microscope. The
levels of glycogen and fat in the tissue can be measured as well as the levels
of glucose-6-phosphatase activity present. This can help to confirm the type of glycogen storage
disorder.
3) Blood glucose tests
Blood test is used to measure the blood glucose levels as the blood glucose is generally low with elevated lactate, uric acid, triglyceride and cholesterol in patients suffering from glycogen storage disease type 1.
Hi! I like the way you present your blog information in an organised manner and the contents in your blog is comprehensive and it helps me to understand glycogen storage diseases that are outside the content of our lecture notes. :) Well-written!
ReplyDeleteI have a question regarding the diagnosis part:
Can this disease be diagnose even before birth, such as through the diagnosis of diseased gene sequence with the help of the human genome project?
Hi thank you for visiting our blog!
DeleteGSD type 1a can be dianosed even before birth by chorionic villi sampling and amniocentesis. As the location of the G6Pase enzyme has already been determined; at chromosome 17 on the q21 band, this makes diagnosis even easier.
Also, the chances of a couple getting a child with this defective enzyme can be checked by screening the parents' DNA, as both parents have to be carriers before possibly conceiving a child who will get the disease.
Hi Karine, Yan Wen and Fareed! Thank you for your constructive comments! The disease can be diagnose even before birth.
Delete1) Amniocentesis
Involves taking a sample of amniotic fluid from around the baby. This allows the doctor to study the levels of the enzymes in the amniotic fluid and therefore determine whether the unborn baby has a glycogen storage disorder.
2) Chorionic villi sampling
Involve taking a sample of the chorionic villus for biopsy test to check for any GSDs. Chorionic villi are tiny finger-shaped growths found in the placenta. The genetic material in chorionic villus cells is the same as that in the baby's cells. Through this method, the geneticist will be able to discuss the likelihood of your child having glycogen storage disorder. This allows couple to decide whether they plan to give birth to their baby who is likely to have GSDs and also to prepare them about the problems they will face when taking care of the child.
In addition, if there is someone else in the family has a glycogen storage disorder, the couple may want to go a geneticist (a gene specialist). The geneticist will be able to discuss the likelihood of your future child, or children, having a glycogen storage disorder.
You may refer to our references (http://www.patient.co.uk/health/glycogen-storage-disorders-leaflet) for more information.
Thank you Nadiyah and Mun Yee for your detailed explanation in helping me to understand more about genetic diagnosis! :D
ReplyDelete