By: Nikki Nies

Galactosemia occurs when one the body does not metabolize galactose, a simple sugar.  As an inherited disorder, it’s important to review family history and consult your doctor for further information if needed.

There are 3 forms that can be found:

  1. Galactose-1 phosphate uridyl transferase (GALT) deficiency: most severe and common form; one is missing GALT enzyme to convert galactose to glucose
  2. Deficiency of galactose kinase (GALK): caused by deletrious mutations in GALK1 gene; called Type II galactosemia; if left untreated, high levels of galactose and galactitol may accumulate in blood tissues; may be limited to juvenile cataract formation;
  3. Deficiency of galactose-6-phosphate epimerase

Symptoms:  Symptoms can occur within a few days of an infant’s life. Symptoms can be due to a blood infection of E. coli

  • Yellowing skin or eyes (jaundice)
  • Vomiting
  • Poor weight gain
  • Lethargy
  • Opacities in the lenses
  • Irritability
  • Convulsions
  • Poor feeding–not consuming enough calories or nutrients


  • Hepatomegaly–enlarged liver
  • Hypoglycemia–low blood sugar
  • Mental retardation
  • Ascites–fluid accumulation in abdomen
  • Cirrhosis
  • Aminoaciduria–amino acids in urine

Further complications that should be considered: cataracts; cirrhosis in liver; intellectual disability; delayed speech development; tremors and uncontrollable functions; severe infection with E. coli; irregular menstrual periods and/or reduction function of ovaries

Tests for Galactosemia:

  • Blood culture from E. coli
  • Enzyme activity in RBC
  • Ketones in urine
  • Prenatal diagnosis measuring galactose-1-phosphate uridyl transferase

Diagnosis of galactosemia is often based on the absence of the enzyme GALT in red blood cells.  Diagnosis usually occurs within the first week of birth by a blood test.

Treatment:Since galactose is a compound made of glucose and lactose, those with galactosemia can not consume any milk–animal or human form.   Often times, new mothers will use nonmilk formulas for their new infants as tolerance of milk is not known yet and is not worth the risk.  A buildup of galactose in one’s immune system can cause damage to liver, brain, eyes and/or kidneys.

One must read nutrition facts label thoroughly as there can be hidden sources of milk in unforeseen food products.

An alternative to milk consumption can include a soy formula, Nutramigen,which is a protein hydrolysate formula or a meat based formula.

Check out the entire list of “unacceptable” ingredients to avoid for a galactosemia diet.  Are you surprised by what items made the list?


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