How common is Duarte variant galactosemia?

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.

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 prevalence of galactosemia?

Classic galactosemia occurs in approximately 1 of 60,000 livebirths. However, the reported incidence of galactosemia varies geographically from 1 in 30,000 to 40,000 in Europe [1] to one in one million in Japan [2]. The estimated incidence in the United States is 1 in 53,000 [3].

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.

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).

Can you breastfeed a baby with Duarte galactosemia?

“In Washington you will be told your child has Duarte galactosemia, but you can breastfeed or use a milk-based formula.

Can a baby with galactosemia breastfeed?

In terms of infant conditions, galactosemia is clearly an absolute contraindication to breast-feeding. Breast milk is a rich source of lactose, and the very survival of infants with galactosemia is dependent on their receiving a non-lactose-containing formula.

Can you live a normal life with galactosemia?

Though a person with galactosemia will never be able to process this type of sugar, they can live normal lives if the disease is caught early enough. Along with eliminating dairy, your doctor may recommend cutting out some fruits, vegetables, and candies that contain galactose.

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.

Can PKU babies breastfeed?

Can I breastfeed my baby if I have PKU? Yes you can breastfeed! Breastfeeding is possible for women who have normal babies and who have phe levels in the safe range.

Can galactosemia be cured?

There is no cure for galactosemia or approved medication to replace the enzymes. Although a low-galactose diet can prevent or reduce the risk of some complications, it may not stop all of them.

What are the symptoms of Duarte variant galactosemia?

Clinical characteristics: Infants with Duarte variant galactosemia who receive breast milk or a high galactose-containing formula (dairy milk-based formula) are typically asymptomatic and show the same prevalence of acute issues seen in the general newborn population.

When to restrict galactose for infants with Duarte variant?

Management: Treatment of manifestations:Currently, there is no uniform standard of care regarding restriction of dietary galactose for infants with Duarte variant galactosemia. Thus, some health care providers, or parents, may choose to restrict dietary galactose in the first year of life, while others may not.

When to discontinue dietary galactose in infancy?

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. If the level is within the normal range (<1.0 mg/dL), dietary restriction of galactose is generally discontinued.