Galactosemia means galactose in the blood. Galactose is a simple sugar generally found in milk, organs, and other living things.

Galactosemia is a genetic disorder that the body is unable to process galactose. The person who is diagnosed with galactosemia does not have an enzyme called GALT (galactose-1-phosphate uridyl transferase) in their body. So, the body is unable to break down the food that contains galactose. Hence, galactose is high in the blood.

GALT (galactose-1-phosphate uridyl transferase) is a protein-coding gene and the function of GALT is responsible for galactose metabolism.

Phenotype related to Galactosemia:

  • Presence of blood protein
  • Rheumatoid arthritis
  • Autoimmune disease
  • Ankylosing spondylitis
  • Psoriasis
  • Ulcerative colitis
  • Crohn’s disease
  • Sclerosing cholangitis
Chromosome 9 , GALT gene is located at 9p13.3

  • Not common among Asian population.
  • Variation of Galactosemis gene is common among African-Americans population.

Galactosemia I:

  • Also known as classic galactosemia.
  • Common and severe form of the condition.
  • Female reproductive problem caused by an early loss of function of the ovaries (premature ovarian insufficiency). Early menopause before the age of 40.
  • Autosomal recessive disorder. This means two copies of abnormal genes from both parents are passed it down to the next generation.

Galactosemia II/ GALAC2:

Galactokinase deficiency, Chromosome 17. Location: 17q25.1
  • Also called galactokinase deficiency.
  • The lactose-free diet is required to maintain during the lifetime of a child or adult. Especially for children, an incorrect diet could cause the formation of a cataract.
  • The regular eye examination is the best way to prevent blindness.

Galactosemia III/GALAC3:

Galactose epimerase deficiency, Chromosome 1. Location 1p36.11
  • Also called galactose epimerase deficiency.
  • Caused by mutation in the GALE gene.
  • Clinical feature of galactose epimerase deficiency includes liver damanged, deafness and cataracts.


Urint Test

Summary of Research Articles.

The studies found five novel mutations among unrelated Japanese patients. Three were missense mutations and two deletions.

According to the research article ” Molecular characterization of galactokinase deficiency in Japanese patients”, all three missense mutations (R256W, T344M, and G349S) occurred at CpG dinucleotides, and the T344M and G349S mutations occurred in the conserved region.

Diet Recommendation:

Avoid the food which contained milk, dairy, cheese, ice cream, butter, yogurt, pizza, milk coffee and goat milk etc.