Sunday, 24 May 2015

Diagnosis


General Tests 
These two tests are done to measure the amount of certain substances in the baby's body. 
  
 1. Blood Test 
There are actually 2 ways to draw blood from a baby. The first way is through the vein and the second way is through the heel. 
2. Urine Test
2 Main Abnormalities to notice for blood and urine test: 
1. Aminoaciduria 
- Abnormal amount of amino acids in the urine or blood plasma
- If there is a low amount of amino acids, it shows that there is a deficiency in the enzymes in the body.

2. Hypoglycemia  
-Low blood sugar level 
-If there is low blood glucose level, this indicates that there is low amount of enzyme activity to convert the galactose into glucose. 

Possible Blood test Results:

Type 1 Galactosemia:


Type 2 Galactosemia:


 Content Reference: http://www.nlm.nih.gov/medlineplus/ency/article/000366.htm 
Picture Reference: http://i.huffpost.com/gen/1488767/thumbs/o-URINE-TEST-570.jpg?7  
http://www.macleans.ca/wp-content/uploads/2014/07/blood-test-1600x900.jpg 
http://www.webmd.com/children/galactosemia-test?page=3
http://www.webmd.com/children/galactosemia-test?page=4 
                               
 

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