Galactosemia is an inherited disorder in which the body is not able to appropriately metabolize sugar galactose resulting in various complications. In this article, we will discuss about the various causes, symptoms, and treatments for Galactosemia.


How Is Galactosemia Defined?

  • Galactosemia is a pathological condition where the body is not able to metabolize sugar galactose.
  • This is an inherited disease, meaning it has been passed down through generations.
  • Inheritance is autosomal recessive genetic transfer of the disease.1
  • Galactosemia is more common disease observed among Irish population.
  • Dairy product and milk causes excess generalized accumulation of Galactose in the body.
  • Excessive accumulation of galactose in liver, kidney eyes and brain cells causes tissue damage.
  • Individuals affected with Galactosemia are unable to tolerate any form of dairy products and need to be extra careful when consuming foods containing galactose.

Causes of Galactosemia

  • Dairy Product-
    • The lactose that is present in various dairy products is broken down by an enzyme called lactase into glucose and galactose.
  • Enzyme Deficiency-
    • Enzyme lactase deficiency is found in-patient suffering with Galactosemia.2
    • Enzyme lactase deficiency results in poor metabolism of galactose.
  • Toxic Level of Galactose- High concentration of galactose causes hepatomegaly, cirrhosis of the liver, kidney failure, damage to the brain and vision impairment.
  • Life Threatening Condition- Galactosemia often results in life threatening complications when not appropriately treated or ignored.

Symptoms Of Galactosemia

Non-Specific Symptoms Of Galactosemia-

  • Loss of weight
  • Weakness and lethargy
  • Fatigue
  • Refuse to drink milk
  • Failure to thrive

Specific Symptoms Of Galactosemia -

Central Nervous System-

  • Convulsions
  • Irritable
  • Tremors
  • Learning disability
  • Speech disability

Liver Effects-

  • Jaundice
  • Yellow discoloration of urine
  • Pale clay color stool
  • Yellow skin
  • Yellow eyes

Gastrointestinal Effect-

  • Nausea and vomiting
  • Diarrhea


  • Blurry vision
  • Diplopia

Signs of Galactosemia-

  • Hepatomegaly- Liver enlargement
  • Ascites- Fluid in abdomen

Diagnosis of Galactosemia

Urine Examination-

Urine test will reveal presence of

  • Amino acids
  • Ketone in urine
  • High level of galactose in urine

Blood Examination-

  • Blood Sugar- Presence of low blood sugar suggests persistent hypoglycemia
  • Blood Culture- Blood culture may indicate E. coli sepsis
  • Enzyme activities in red blood cells- tested positive.
  • Galactosemia Test-Newborn screening
    • Evaluates 3 enzymes
    • Absence of any one of the 3 enzymes and high urine level of galactose is considered as diagnostic criteria.

Treatment For Galactosemia

Galactoemia Patients Should Avoid Dairy Product-

  • Avoid any type of dairy product.
  • Avoid breast feeding
  • Eliminate lactose and galactose from food.

Alternative To Dairy Product-

  • Soy formula
  • Meat-based formula
  • Lactose-free formula
  • Calcium supplements

Prognosis Of Galactosemia

Early Diagnosis-

  • Affected individuals who are diagnosed early and avoid all forms of dairy products lead a normal life but there have been a few cases of mild form of intellectual dysfunction in some people.

Complications Of Galactosemia

Some Of The Complications Of Galactosemia Are:


  • Cataracts


  • Cirrhosis

Central Nervous System-

  • Tremors
  • Ataxia3
  • Delayed speech
  • Intellectual impairment


  • E.Coli infection


  • Diminished bone density4

Genitourinal System-

  • Dysmetria
  • Premature Ovarian Failure


1. Three missense mutations in the galactose-1-phosphate uridyltransferase gene of three families with mild galactosaemia.

Shin YS1, Gathof BS, Podskarbi T, Sommer M, Giugliani R, Gresser U.

Eur J Pediatr. 1996 May;155(5):393-7.

2. Galactosaemia.

Sardharwalla IB1, Wraith JE.

Nutr Health. 1987;5(3-4):175-88.

3. Movement disorders in adult patients with classical galactosemia.

Rubio-Agusti I1, Carecchio M, Bhatia KP, Kojovic M, Parees I, Chandrashekar HS, Footitt EJ, Burke D, Edwards MJ, Lachmann RH, Murphy E.

Mov Disord. 2013 Jun;28(6):804-10. doi: 10.1002/mds.25348. Epub 2013 Feb 11.

4. Skeletal health in adult patients with classic galactosemia.

Batey LA1, Welt CK, Rohr F, Wessel A, Anastasoaie V, Feldman HA, Guo CY, Rubio-Gozalbo E, Berry G, Gordon CM.

Osteoporos Int. 2013 Feb;24(2):501-9. doi: 10.1007/s00198-012-1983-0. Epub 2012 Apr 19.

Written, Edited or Reviewed By:


Last Modified On: October 5, 2016

Pain Assist Inc.

Pramod Kerkar
  Note: Information provided is not a substitute for physician, hospital or any form of medical care. Examination and Investigation is necessary for correct diagnosis.

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