Saturday, 23 May 2015

Symptoms and side effects

This post will first talk about symptoms and then the side effect of this disease.

Symptoms
This is a genetic disorder so symptoms will start to occur during the first few days of life. 
Usually it will occur when the baby is fed with formulated milk or breast milk that contains Galactose. 

Symptoms include: 
  • Convulsion
  • Irritability
  • Lethargy
  • Poor feeding - Baby refuses to drink
  • Poor weight gain of baby
  • Vomiting 
  • Jaundice - Yellowish skin and white of the eyes 












Long term side effect of Galactosemia   
  • Cataracts - Clouding of the lens of the eyes  
  • Cirrhosis of the liver - It is the scarring of the liver and the poor functioning of the liver. It is usually the last stage of chronic liver disease.
  • Delayed speech development 
  • Intellectual disability 
  • Severe infection with bacteria 
  • Tremors and uncontrollable motor functions 
  • Irregular menstrual periods, reduced function of ovaries leading to ovarian failure 
  • Females with this disorder will have reproductive problems caused by ovarian failure
  • Death - if galactose is present in the diet
The symptoms and side effect of patients with Galactosemia varies from patient to patient. The symptoms and side effect mentioned above is usually for Type 1 patients. 

Type 2 patients will experience fewer medical problems, they might develop cataracts but otherwise experience few long term side effect. 

Type 3 symptoms and side effects varies from mild to severe as they might experience cataracts, delayed growth and development, intellectual disability, liver disease and kidney problems.

Content references: http://www.nlm.nih.gov/medlineplus/ency/article/000366.htm
http://www.newbornscreening.info/Parents/otherdisorders/Galactosemia.html 

Image reference: http://mcbrideandmccreesh.com/wp-content/uploads/2014/01/cataract.jpg 
http://depts.washington.edu/hepstudy/definitions/uploads/49/Liver_Cirrhosis.png 
 

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