Galactosemia - Symptoms,Causes
Galactosemia is a condition in which the body is unable to use (metabolize) the simple sugar galactose.
Causes
Galactosemia is an inherited disorder. This means it is passed down through families.
It occurs in approximately 1 out of every 60,000 births among Caucasians. The rate is different for other groups.
There are three forms of the disease:
Galactose-1 phosphate uridyl transferase deficiency (classic galactosemia, the most common and most severe form)
Deficiency of galactose kinase
Deficiency of galactose-6-phosphate epimerase
People with galactosemia are unable to fully break down the simple sugar galactose. Galactose makes up half of lactose, the sugar found in milk. The other sugar is glucose.
If an infant with galactosemia is given milk, substances made from galactose build up in the infant's system. These substances damage the liver, brain, kidneys, and eyes.
Persons with galactosemia cannot tolerate any form of milk (human or animal). They must be careful about eating other foods containing galactose.
Symptoms
Infants with galactosemia can develop symptoms in the first few days of life if they eat formula or breast milk that contains lactose. The symptoms may be due to a serious blood infection with the bacteria E. coli.
ConvulsionsConvulsions
IrritabilityIrritability
LethargyLethargy
Poor feedingPoor feeding (baby refuses to eat formula containing milk)
Poor weight gain
Yellow skin and whites of the eyes (jaundice)
Vomiting
Exams and Tests
Signs include:
Amino acids in the urine and/or blood plasma (aminoaciduria)
Enlarged liver (hepatomegaly)
Fluid in the abdomen (ascites)
Low blood sugar (hypoglycemia)
Newborn screening in many states will test for this condition.
Tests include:
Blood cultureBlood culture for bacteria infection (E. coli sepsis)
EnzymeEnzyme activity in the red blood cells
Ketones in the urineKetones in the urine
Prenatal diagnosis by directly measuring the enzyme galactose-1-phosphate uridyl transferasegalactose-1-phosphate uridyl transferase
"Reducing substances" in the infant's urine, and normal or low blood sugarlow blood sugar while the infant is being fed breast milk or a formula containing lactose
Treatment
People with this condition must avoid all milk, milk-containing products (including dry milk), and other foods that contain galactose for life. It is essential to read product labels and be an informed consumer.
Infants can be fed with:
Soy formula
Meat-based formula or Nutramigen (a protein hydrolysate formula)
Another lactose-free formula
Calcium supplements are recommended.
Update Date: Updated by: Chad Haldeman-Englert, MD, Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA. Review provided by VeriMed Healthcare Network (3/13/2006). Also reviewed by David Zieve, MD, MHA, Medical Director, A.D.A.M., Inc.
Galactosemia - Symptoms,Causes
