What is the normal range for galactosemia?

What is the normal range for galactosemia?

In clinical variant galactosemia When the affected individual is on a lactose-free diet, the level is usually <1.0 mg/dL. Normal level of erythrocyte galactose-1-phosphate is <1 mg/dL. Plasma free galactose is usually >10 mg/dL, but may be as high as 90-360 mg/dL (5-20 mmol/L).

What enzyme is involved in galactosemia?

The disorder is caused by a deficiency of an enzyme galactose-1-phosphate uridylyl transferase (GALT) which is vital to this process.

What is the most common enzyme deficient in galactosemia?

GALT is responsible for hereditary galactosemia and is the most common deficiency. This enzyme catalyzes conversion of galactose-1-phosphate and UDP glucose to UDP galactose and glucose-1-phosphate.

How do you confirm galactosemia?

Which laboratory tests are used to diagnose classic galactosemia? If classic galactosemia is suspected based on symptoms, family history, or newborn screen results, measurement of GALT enzyme activity in red blood cells and DNA analysis for GALT gene variants are recommended to confirm diagnosis.

What is the life expectancy of someone with galactosemia?

With a galactose-restricted diet patients have a normal life expectancy. However, patients may still suffer long-term complications such as problems of mental development, disorders of speech, hypergonadotrophic hypogonadism and decreased bone mineral density (Bosch 2006).

Is there a cure for galactosemia?

Without treatment, most affected newborns do not survive. Typically diagnosed in newborn screening tests, galactosemia can be treated only by entirely removing lactose and galactose from the diet. There is no cure yet.

Is galactosemia a disability?

If you or your dependent(s) are diagnosed with Classic Galactosemia and experience any of these symptoms, you may be eligible for disability benefits from the U.S. Social Security Administration.

How does galactosemia affect the brain?

Galactosemia means too much galactose builds up in the blood. This accumulation of galactose can cause serious complications such as an enlarged liver, kidney failure, cataracts in the eyes or brain damage. If untreated, as many as 75% of infants with galactosemia will die.

What foods should be avoided with galactosemia?

Food Ingredients which are unacceptable in the diet for Galactosemia:

• Butter.
• Buttermilk.
• Buttermilk Solids.
• Cheese (EXCEPTIONS: Jarlsberg, Gruyere, Emmentaler, Swiss, Tilster, grated 100% Parmesan, Parmesan aged >10 months, and sharp Cheddar cheese aged >12 months)
• Cream.
• Dry Milk.
• Dry Milk Protein.
• Dry Milk Solids.

Can adults get galactosemia?

Galactosemia symptoms that adults may experience Cataracts 1 in 5 people with Galactosemia develop Galactosemia-related cataracts as an adult, which is caused by build-up of toxic galactitol in the lens of the eye.

Can galactosemia be cured?

What are the symptoms of galactosemia in adults?

Initial signs/symptoms may include poor feeding, vomiting, diarrhea, jaundice, bleeding tendencies, lethargy, abdominal distension with liver swelling, and increased risk of sepsis (a reaction from a blood infection). Later symptoms can include liver failure, cataracts, and brain damage.

What is galactosemia?

Summary Summary Listen Galactosemia, which means “galactose in the blood,” refers to a group of inheriteddisorders that impair the body’s ability to process and produce energy from a sugar called galactose.

What is the rate of incidence for galactosemia?

If both parents carry a nonworking copy of the gene that can cause galactosemia, each of their children has a 25% (1 in 4) chance of being affected with it. People with galactosemia are unable to fully break down the simple sugar galactose.

What are the treatment options for galactosemia?

Depending on the type of galactosemia, treatment may involve removing galactose from the diet (as soon as the disorder is suspected), calcium supplementation, and individualized care for any additional symptoms.[6] The long-term outlook for people with galactosemia varies depending on the type, symptoms present, and commitment to the diet.

What foods contain galactose?

 Galactose is present in many foods, including all dairy products (milk and anything made from milk), many baby formulas, and some fruits and vegetables. [1][2]The impaired ability to process galactose can be due to the deficiency of any of 3 enzymes, caused by mutationsin different genes.[3]