How common is Duarte variant galactosemia?
Duarte galactosemia (DG) is much more common than classic galactosemia, and is estimated to affect close to one in 4,000 infants born in the United States.
What is galactosemia diagnosis?
Diagnosis. Classic galactosemia and clinical variant galactosemia are diagnosed when galactose-1-phosphate is elevated in red blood cells and GALT enzyme activity is reduced. Molecular genetic testing is also available to identify mutations in the GALT gene.
How is Galactosaemia diagnosed?
Galactosemia is usually diagnosed though tests that are done as part of newborn screening programs. A blood test will detect high levels of galactose and low levels of enzyme activity. The blood is usually taken by pricking a baby’s heel. A urine test may also be used to diagnose this condition.
How is Duarte galactosemia treated?
Treatment, if needed, consists of the use of a special lactose-free formula and/or a lactose and galactose free diet. The special food plan, if used, is only during the first year of life because children with Duarte galactosemia develop an increased tolerance for dietary galactose as they grow.
Can you breastfeed with Duarte galactosemia?
“In Washington you will be told your child has Duarte galactosemia, but you can breastfeed or use a milk-based formula.
How many people have Duarte galactosemia?
Duarte variant galactosemia is detected in as many as 1:3,500 screened births in some states and essentially zero in others, largely reflecting differences in NBS protocols [Pyhtila et al 2015] (see Diagnosis, Erythrocyte GALT enzyme activity).
What is the life expectancy of someone who has 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).
What is the prognosis for galactosemia?
Prognosis of Galactosemia If galactosemia is recognized at birth and adequately treated, liver and kidney problems do not develop, and initial mental development is normal.
Can galactosemia be detected prenatally?
Prenatal testing for galactosemia can be done as early as 15-16 weeks of pregnancy. Genetic counselling to discuss the benefits of prenatal testing options in more detail is recommended. Unaffected siblings of a child with galactosemia have a 2/3 chance of being carriers.
What foods should be avoided with galactosemia?
A person with galactosemia must avoid foods containing milk and all dairy products, such as:
- Cow’s milk.
- Butter.
- Yogurt.
- Cheese.
- Ice cream.
Is galactosemia considered 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 is the diagnosis of Duarte variant galactosemia made?
Diagnosis/testing: Duarte variant galactosemia is diagnosed by a combination of biochemical and genetic testing.
What causes jaundice in babies on low galactose formula?
Some may develop jaundice, but this symptom typically resolves quickly when the baby is switched to a low-galactose formula. Duarte galactosemia is caused by changes ( mutations) in the GALT gene and is inherited in an autosomal recessive manner.
When to start a galactose challenge in infancy?
Thus, some health care providers, or parents, may choose to restrict dietary galactose in the first year of life, while others may not. When dietary galactose is restricted in infancy, centers often perform a galactose challenge around age one year followed by measurement of the erythrocyte galactose-1-phosphate level.
When to resume galactose restriction after one year?
Surveillance:For infants on dietary restriction of galactose: if the erythrocyte galactose-1-phosphate level is >1.0 mg/dL following a galactose challenge at age one year, galactose restriction may be resumed.