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Galactosemia : Overview


Galactosemia may be a 
rare genetic disease that affects how your body metabolizes galactose. Galactose may be a monosaccharide found in milk, cheese, yogurt, and other dairy products. When it’s combined with glucose, it makes lactose.

Galactosemia means having an excessive amount of 
galactose within the blood. The buildup of galactose can cause serious complications and health problems.

There are four main types of galactosemia disorders:


·         type 1, or classic and clinical variant galactosemia

·         type 2, or galactokinase deficiency

·         type 3, or epimerase deficiency

·         Duarte variant galactosemia



Symptoms of galactosemia usually develop several days or weeks after birth.


The most common symptoms include:


·         loss of appetite

·         vomiting

·         jaundice, which is yellowing of the skin and other parts of the body

·         liver enlargement

·         liver damage

·         fluid building up in the abdomen and swelling

·         abnormal bleeding

·         diarrhea

·         irritability

·         fatigue or lethargy

·         weight loss

·         weakness

·         higher risk of infection



Multiple complications can appear if galactosemia isn’t diagnosed and treated directly 
. The buildup of galactose in the blood can be dangerous. Without diagnosis and intervention, galactosemia are often life-threatening in newborns.

Common complications of galactosemia include:


·         liver damage or liver failure

·         serious bacterial infections

·         sepsis, which is a life-threatening problem caused by infections

·         shock

·         delayed development

·         behavioral problems

·         cataracts

·         tremors

·         speech problems and delays

·         learning disabilities

·         fine motor difficulties

·         low bone mineral density

·         reproductive problems

·         premature ovarian insufficiency


What causes galactosemia?

Galactosemia is caused by mutations in genes and a deficiency of enzymes. That causes the sugar galactose to create 
up within the blood. It’s an genetic disease , and fogeys can pass it right down to their biological children. The parents are considered carriers of this disease.

Galactosemia may be a 
recessive genetic disease , so two copies of the defective gene need to be inherited for the disease to seem . This usually means a person inherits one defective gene from each parent.



Notice: Please consult your doctor before following any instruction of

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