Things to know about galactosemia

Things to know about galactosemia

This page describes things to know about galactosemia. Galactosemia is an inherited condition, in which the body cannot metabolize galactose, a monosaccharide sugar. Galactosemia occurs in approximately 1 of 60, 000 births among the Caucasians. Galactose is found in milk (lactose sugar) as a polymer of glucose (Galactose + glucose = lactose).
Infant suffering from galactosemia experience liver damage, brain damage, kidney damage and eye damage, due to galactose build up in the body.

People with galactosemia cannot tolerate any form of milk (Cow or human) and other galactose containing foods.

Things to know about galactosemia

Things to know about galactosemia

Things to know about galactosemia ; Cause of galactosemia

Galactosemia is an autosomal recessive condition associated with mutation in one of three genes that code for protein associated with galactose metabolism.

These genes are;

  1. GALT gene (located on chromosome 9): mutation in this is associated with type 1 galactosemia

  2. GALK1 gene (located on chromosome 17): mutation in this is associated with type 2 galactosemia

  3. GALE gene (located on chromosome 1): mutation in this is associated with type 3 galactosemia

Forms of galactosemia

Galactosemia, an inborn error of metabolism is associated with three enzymes in the galactose metabolic pathway.

  • Type 1: Galactose-1-phosphate uridyl transferase deficiency (classic galactosemia,  the most common type and severe form of galactosemia).

  • Type 2: Galactose kinase deficiency.

  • Type 3: Galactose-6-phosphate epimerase deficiency.

Symptoms of galactosemia

Symptoms may be due to infection with E.coli bacteria, and may develop in the first few days of life if fed with formula or breast milk (Lactose containing foods).

The symptoms of galactosemia include;

  1. Convulsion

  2. Irritability

  3. Lethargy

  4. Poor feeding

  5. Poor weight gain

  6. Jaundice

  7. Vomiting

  8. Bleeding from coagulopathy

Test for confirming galactosemia

Test to confirm galactosemia

  1. E.coli culture (Blood culture for bacterial infections)

  2. Enzyme activity in red blood cells

  3. Urine ketone bodies quantification

  4. Prenatal diagnosis; test of galactose-1-phosphate uridyl transferase

Complications of galactosemia

  1. Cataract

  2. Cirrhosis

  3. Death

  4. Speech development delay

  5. Intellectual disability

  6. Uncontrollable motor activity and tremors

  7. Infection (Ecoli sepsis)

  8. Ovary function could be reduced which could lead to ovarian failure

  9. Liver dysfunction and / or hypertomegally

  10. Jaundice

  11. Lethargy

  12. Hypolonia

Treatments for galactosemia

  • Lactose avoidance : avoid milk related product (dairy products)

  • Infant can be fed with soy formula, lactose free formula and meat based formula

Get more on galactosemia here

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