Galactosemia:
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| Source: Jlabanimation |
Contents:
- Discovery
- Definition
- Types Of Galactosemia
- Mechanism Of Galactosemia
- Causes Of Galactosemia
- Symptoms
- Enzymes causing Galactosemia
- Preventions
- Treatments
1: Discovery:
Galactosemia was discovered by Robert Guthrie in newborn babies.
Some articles mentioned Galactosemia, an inborn error of galactose metabolism, was first described in the 1900s by von Ruess. The subsequent 100years has seen considerable progress in understanding the underlying genetics and biochemistry of this condition.
2: Define Galactosemia:
A metabolic disorder that is transmitted through genes as an autosomal recessive trait and in which galactose accumulates in the blood due to deficiency of an enzyme catalyzing its conversion to glucose. And galactose level become higher in blood.
3: Types Of Galactosemia:
There are three main types of galactosemia: Classic (type I) Galactokinase deficiency (type II) Galactose epimerase deficiency (type III) uridyl Transferase deficiency.
4: Mechanism Of Galactosemia:
Due to mutation in GALT gene responsible for GALT enzyme the metabolism of galactose become disrupted and the cells close the ion channel to stop further absorption of galactose because they have enough galactose in undigested form so because of that galactose level become higher in blood and lead to the condition Called Galactosemia.
5: Causes:
Causes of galactosemia are following:
Mutation:
is the main cause of galactosemia. Mutation in genes responsible for coding the following enzymes can cause Galactosemia.
6: Enzymes causing Galactosemia:
- Uridyl Transferase
- Galactose kinase or Galactokinase
- 4- Epimerase
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| Enzymes causing Galactosemia |
Gene silencing and RNA interference can also cause the elevation of galactose in blood which will be termed as Galactosemia.
7: Symptoms:
Symptoms of Galactosemia are following:
- Convulsions.
- Irritability.
- Lethargy.
- Poor feeding
- Poor weight gain.
- Yellow skin and whites of the eyes (jaundice)
- Vomiting.
8: Preventions:
There is no known way to prevent galactosemia. You may have to do genetic counseling if you are galactosemia patient or have a family history of this disorder. The counselor can help you find the risk of transferring the trait to your children.
9: Treatment:
Galactosemia patient should have to avoid such food which lacks Galactose they don't have to drink human milk or cow's milk. Because these contain high level of Galactose.
10: CRISPR CASE-9 treatment Of Galactosemia:
Could be treated through CRISPR CASE-9 but under approval from FAD.
