What Are Other Names for this Condition? (Also known as/Synonyms)

• Complex Carbohydrate Intolerance (Glucose Galactose Malabsorption)
• GGM (Glucose Galactose Malabsorption)
• Monosaccharide Malabsorption (Glucose Galactose Malabsorption)

What is Glucose Galactose Malabsorption? (Definition/Background Information)

• Glucose Galactose Malabsorption (GGM) is a rare, metabolic condition in which the cells that line the intestine cannot absorb and take in two specific sugars, namely glucose and galactose. It is manifested following the birth of a child
• An individual with GGM, who consumes these sugars or any food item diet that contains these sugars, has difficulty in properly digesting them. Since these sugars cannot be absorbed into the cells of the body, water remains outside of the body’s cells. This leads to diarrhea and dehydration
• There are no associated risk factors for Glucose Galactose Malabsorption, since this condition is inherited and passed down through generations of families. The cause of GGM is inheriting two copies of a specific gene that are defective
• If it is known that the child has a family history of Glucose Galactose Malabsorption, it is likely that he/she has the disorder, if persistent, watery diarrhea occurs during the first few days of life. However, the severity of the symptoms may vary from one child to another
• The diagnosis of Glucose Galactose Malabsorption is typically made very early in the infant’s life. There are also specific tests that can be performed by healthcare providers to provide a physical diagnosis of this metabolic disorder
• Complications of Glucose Galactose Malabsorption include dehydration during an infant’s first few days of life. Severe diarrhea and the loss of large amounts of water from the body are other complications. Adults with GGM often experience abdominal discomfort (bloating, diarrhea, nausea, cramps) after eating foods containing certain sugars (milk sugar and table sugar)
• In order to treat Glucose Galactose Malabsorption, certain sugars must be avoided in certain foods. These sugars are replaced with fructose (fruit sugar)
• The prognosis of Glucose Galactose Malabsorption is good, as long as the mentioned sugars (and foods) are avoided in the diet. Nevertheless, the condition is incurable and is present lifelong

Who gets Glucose Galactose Malabsorption? (Age and Sex Distribution)

• Glucose Galactose Malabsorption is diagnosed during the first few week’s of an infant’s life
• Both males and females are affected. But, about two-thirds of the cases (or about 67%) are seen to occur in females
• There is no geographical localization of Glucose Galactose Malabsorption. Also, no ethnic groups or races are more predisposed than others in terms of getting GGM

What are the Risk Factors for Glucose Galactose Malabsorption? (Predisposing Factors)

• Glucose Galactose Malabsorption is an inherited disorder passed down through generations of a family. This is the main risk factor
• There are no other known predisposing risk factors for the condition

It is important to note that having a risk factor does not mean that one will get the condition. A risk factor increases ones chances of getting a condition compared to an individual without the risk factors. Some risk factors are more important than others.

Also, not having a risk factor does not mean that an individual will not get the condition. It is always important to discuss the effect of risk factors with your healthcare provider.

What are the Causes of Glucose Galactose Malabsorption? (Etiology)

• Glucose Galactose Malabsorption is a disorder that is caused by inheriting a specific gene that codes for the production of a protein involved in transporting sodium and glucose. This protein is found primarily in the intestines (or gut)
• A mutation that occurs on this gene changes the sequence of the gene. As a result of which there is an inability of the cells in the gut to absorb glucose and galactose sugars
• This gene (known as SLC5A1 gene) depends on sodium (a salt ion) to transport/carry glucose and galactose. GGM occurs when two mutated copies of this gene are inherited. This is termed as autosomal recessive pattern of inheritance

Autosomal recessive: Autosomal recessive conditions are traits or disorders that occur when two copies of an abnormal gene have been inherited on a non-sex chromosome. If both parents have an autosomal recessive condition, there is a 100% likelihood of passing on the mutated genes to their children. If, however, only one mutant copy of the gene is inherited, the individual will be a carrier of the condition, but will not be present with any symptoms. Children, born to two carriers, have a 25% chance of being homozygous dominant (unaffected), a 50% chance of being heterozygous (carrier), and a 25% chance of being homozygous recessive (affected).

What are the Signs and Symptoms of Glucose Galactose Malabsorption?

The signs and symptoms of Glucose Galactose Malabsorption may include:

• Severe diarrhea and dehydration that occurs during the first few days (or even as early as the very first day) of an infant’s life
• Adults who have GGM often experience abdominal bloating and discomfort, nausea, diarrhea, and abdominal pain

Not all children have the same severity of signs and symptoms. Some may have mild signs and symptoms, while others may have severe presentations.

How Is Glucose Galactose Malabsorption Diagnosed?

The diagnosis of Glucose Galactose Malabsorption disorder may involve the following tests and exams:

• A thorough family history evaluation and a complete physical examination
• The presence of persistent, watery diarrhea during the first few days of an infant’s life would lead a healthcare provider to suspect GGM

If the healthcare provider suspects the presence of Glucose Galactose Malabsorption, then the following tests may be performed: 

• Glucose breath hydrogen test: This test is used to detect intolerance of lactose (milk sugar). The individual blows into a bag similar to a balloon and the amount of hydrogen in the breath is detected
• Normally, levels of hydrogen are low in an individual’s breath. Increased levels of hydrogen indicate intolerance to lactose. Lactose is a sugar that contains glucose and galactose

Many clinical conditions may have similar signs and symptoms. Your healthcare provider may perform additional tests to rule out other clinical conditions to arrive at a definitive diagnosis.

What are the possible Complications of Glucose Galactose Malabsorption?

The complications of Glucose Galactose Malabsorption may include the following:

• Severe dehydration resulting from severe diarrhea seen early in an infant’s life
• Malnutrition may occur due to severe diarrhea and dehydration
• In adults with Glucose Galactose Malabsorption, abdominal complications when certain sugars are consumed may be noted
• Osteopenia, which is low bone mineral density
• Osteoporosis, in which the bones become thin and weak increasing the risk for fractures

How Is Glucose Galactose Malabsorption Treated?

Glucose Galactose Malabsorption is a condition that cannot be cured. However, it may be managed in the following manner:

• Removing glucose and galactose sugars from the diet: Avoiding glucose and galactose includes removing any milk and products derived from milk from the individual’s diet
• It is most often recommended that all sucrose (table sugar), lactose (sugar found in milk and milk products) and glucose be removed from the diet. Instead, fructose (fruit sugar) may be used to replace these sugars in the diet

How can Glucose Galactose Malabsorption be Prevented?

• Currently, there are no specific methods or guidelines to prevent Glucose Galactose Malabsorption, since it is a genetic condition
• Genetic testing of the expecting parents (and related family members) and prenatal diagnosis (molecular testing of the fetus during pregnancy) may help in understanding the risks better during pregnancy
• If there is a family history of the condition, then genetic counseling will help assess risks, before planning for a child
• Active research is currently being performed to explore the possibilities for treatment and prevention of inherited and acquired genetic disorders such as Glucose Galactose Malabsorption

What is the Prognosis of Glucose Galactose Malabsorption? (Outcomes/Resolutions)

• The prognosis of Glucose Galactose Malabsorption is good, if certain dietary restrictions are strictly followed. However, the condition needs to be monitored lifelong
• Certain sugars (lactose, sucrose, glucose, and galactose) must be removed and avoided in the diet. This includes removing milk and milk products from the diet
• In infants diagnosed with Glucose Galactose Malabsorption, a special formula that does not contain glucose, galactose, or lactose should be used. Breast milk or regular infant formulas should be avoided in these infants

Additional and Relevant Useful Information for Glucose Galactose Malabsorption:

• Lactose intolerance is a condition that occurs when the body cannot digest or absorb lactose (a type of sugar) that is commonly found in milk and other dairy products, because it lacks the enzyme lactase

The following link will help you understand lactose intolerance:

http://www.dovemed.com/diseases-conditions/lactose-intolerance/