** Don't forget to click the drop down menu under this category for information on each individual type of Galactosemia
What is Galactosemia? Galactosemia is a disorder that affects how the body processes a simple sugar called galactose. A small amount of galactose is present in many foods. It is primarily part of a larger sugar called lactose, which is found in all dairy products and many baby formulas. The signs and symptoms of galactosemia result from an inability to use galactose to produce energy.
Researchers have identified several types of galactosemia. These conditions are each caused by mutations in a particular gene, and affect different enzymes involved in breaking down galactose.
Types of Galactosemia:
Galactose Epimerase Deficiency
each causes different patterns of signs and symptoms, see the drop down menu for info on each category.
If infants with classic galactosemia are not treated promptly with a low-galactose diet, life-threatening complications appear within a few days after birth. Affected infants typically develop feeding difficulties, a lack of energy (lethargy), a failure to gain weight and grow as expected (failure to thrive), yellowing of the skin and whites of the eyes (jaundice), liver damage, and bleeding. Other serious complications of this condition can include overwhelming bacterial infections (sepsis) and shock. Affected children are also at increased risk of delayed development, clouding of the lens of the eye (cataract), speech difficulties, and intellectual disability. Females with classic galactosemia may experience reproductive problems caused by ovarian failure.
How common is galactosemia? Classic galactosemia occurs in 1 in 30,000 to 60,000 newborns. The other types are less common and sometimes range from fewer than 1 in 100,000 newborns.
What genes are related to galactosemia?Mutations in the GALE, GALK1, and GALT genes cause galactosemia.
The GALE, GALK1, and GALT genes provide instructions for making enzymes that are essential for processing galactose obtained from the diet. These enzymes break down galactose into another simple sugar, glucose, and other molecules that the body can store or use for energy.
Mutations in the GALT gene are responsible for classic galactosemia (type I). Most of these genetic changes almost completely eliminate the activity of the enzyme produced from the GALT gene, preventing the normal processing of galactose and resulting in the life-threatening signs and symptoms of this disorder. Another GALT gene mutation, known as the Duarte variant, reduces but does not eliminate the activity of the enzyme. People with the Duarte variant tend to have much milder features of galactosemia.
Galactosemia type II results from mutations in the GALK1 gene, while mutations in the GALE gene underlie galactosemia type III. Like the enzyme produced from the GALT gene, the enzymes made from the GALK1 and GALE genes play important roles in processing galactose. A shortage of any of these critical enzymes allows galactose and related compounds to build up to toxic levels in the body. The accumulation of these substances damages tissues and organs, leading to the characteristic features of galactosemia.
.....but the chances of a baby having the only true allergy to human breastmilk or lactose in any form, called galactosemia, affects only 47 babies in the US per year... however, 150 people die annually from a falling coconut hitting them on the head. It's safe to say that this condition is insanely rare.
From "5 Breastfeeding Myths"
WHAT TO EXPECT AT BIRTH:
Galactosemia is one of the PKU (heel prick) test taken before you leave the hospital. At this time, the turn around time in each state various from 2-24 days before you find out the result. The states with the longest turn around seem to be Arkansas, New York, and Georgia as of 2013. Many other countries do not require or take this or other PKU life saving test. Visit the March of Dimes website for a complete list of PKU Diseases and more information on the complete newborn screening process- http://www.marchofdimes.com/baby/bringing-home-baby.aspx
Newborn Screening Lab Information
Symptoms of Classic Galactosemia
The list of signs and symptoms mentioned in various sources for Classic Galactosemia includes the 11 symptoms listed below:
Continued ingestion of galactose- or lactose-containing foods may cause mental retardation, malnourishment, progressive hepatic failure, and death — from the still-unknown process of galactose metabolites accumulating in body tissues. Although treatment may prevent mental impairment, galactosemia can produce a short attention span, difficulty with spatial and mathematical relationships, and apathetic, withdrawn behavior. Cataracts may be the only sign of galactokinase deficiency, resulting from the accumulation of galactitol, a metabolic by-product of galactose, in the lens. (2005, Professional Guide of Diseases)
Symptoms of Duarte Galactosemia
The symptoms are usually vomiting and jaundice. Our son started out on breastmilk and milk based formula. The vomiting started on day 2 of life for him. He was switched to a milk based lactose free formula soon after by the doctor. He continued to vomit several times a day while he remained on breastmilk and lactose free formula. By day 4 he was more jaundiced than usual. The doctor had us try him on several formulas (at this time we had not received the PKU test results). He was finally put on soy formula and the vomiting continued but wasn't as bad as before. Our son threw up about 6 times a day and it was entire bottles. He underwent a barium swallow test a week later and the test showed that he had stomach and small intestine ulcers. By day 17 the PKU test result came back, that he had duarte galactosemia. We were sent to Emory to have additional bloodwork done by Emory Genetics to verify the results. Those results took about 2 days and he tested positive for duarte galactosemia. He was immediately taken off of breastmilk and put on Enfamil Nutramigen Lipid (hypoallergenic) baby formula.
Clinical Information/Symptoms/Longterm Effects
Classic galactosemia (G/G). Infants with classic galactosemia (G/G) have no GALT enzyme activity and are unable to oxidize galactose to CO2. Within days of ingesting breast milk or lactose-containing formulas, affected infants develop life-threatening complications, including feeding problems, failure to thrive, hypoglycemia, hepatocellular damage, bleeding diathesis, jaundice, and hyperammonemia (see Table 2). If classic galactosemia is not treated, sepsis with Escherichia coli, shock, and death may occur. Infants who survive the neonatal period and who continue to drink milk that contains galactose develop mental retardation and other cortical and cerebellar tract signs.
Table 2. Frequency of Specific Findings in Symptomatic Neonates with Classic Galactosemia
Abnormal liver function tests (10%)
Coagulation disorders (9%)
Ascites (4%)Food intolerance76%Vomiting (47%)
Poor feeding (23%)Failure to thrive29%Lethargy16%Seizures1%Sepsis10%Escherichia coli (26 cases)
Streptococcus faecalis (1)From a survey reporting findings in 270 symptomatic neonates [ Waggoner et al 1990)
If a lactose-/galactose-restricted diet is provided during the first three to ten days of life, the symptoms resolve quickly and prognosis is good for prevention of liver failure, Escherichia coli sepsis, neonatal death, and mental retardation. If the diagnosis of galactosemia is not established, the infant who is partially treated with intravenous antibiotics and self-restricted lactose intake demonstrates relapsing and episodic jaundice and bleeding from altered hemostasis concomitant with the introduction of lactose. If treatment is delayed, complications such as mental retardation and growth retardation are likely.
Even with early and adequate therapy, the long-term outcome in older children and adults with classic (G/G) galactosemia can include cataracts, speech defects, poor growth, poor intellectual function, neurologic deficits (predominantly extrapyramidal findings with ataxia), and ovarian failure [Schweitzer 2003). Outcome and the "disease burden" can be predicted based on the level of GALT enzyme activity, GALT genotype, age at which successful therapeutic control was achieved, and compliance with lactose restrictions. Formal outcome analysis for ovarian failure and for verbal dyspraxia found the 13CO2 breath test to be the most sensitive and specific prognostic parameter [Guerrero et al 2000, Webb et al 2003, Barbouth et al 2006).
The following details on long-term outcome were reported by Waggoner as the results of a retrospective, cross-sectional survey of 270 individuals with classic galactosemia.