Galactosemia: the Other Lactose Problem

I maintain this blog for anybody and everybody who wants to remove or reduce lactose in their lives. That covers a lot of territory.

One serious problem I rarely mention because it itself is so rare is galactosemia.

Lactose is a disaccharide, a complex sugar made up of two simple sugars, glucose and galactose. Digestion is literally the splitting of lactose into the two simpler sugars (with the addition of a water molecule, a process known as hydrolysis). The galactose and glucose then enter the bloodstream where the galactose is converted in more glucose, the basic power source of the body.

People with galactosemia digest lactose properly, but they lack the enzyme that converts the galactose. It accumulates in the bloodstream and effectively poisons the body. This otherwise completely harmless sugar can lead to brain damage, blindness and death through liver failure.

Galactosemia is a congenital disorder. It cannot be contracted, but always is present from birth. It must be diagnosed quickly, because breastfeeding or formula feeding with cow's milk-based formulas is deadly.

An English mother and daughter went through this ordeal, according to an article in This Is London.

Like every new mother, Tracey Cooper was determined to give her baby the best start in life.

When she brought her healthy 7lb 8oz daughter Dorothy home from hospital 24 hours after giving birth, she soon settled into a breast-feeding routine.

Everything seemed fine - until the ninth day, when the little girl fell into a deep sleep from which she could not be roused.

...

But it took ten doctors in three hospitals a further six days to diagnose that she had a potentially lethal allergy - to her mother's milk.

Dorothy had galactosaemia, an extremely rare condition causing a violent adverse reaction to lactose, which affects just one in 45,000 babies in Britain.

Instead of helping her grow strong, her mother's milk had been poisoning her, causing her liver to fail.

...

The infant was transferred to a surgical unit at Farnborough where she had so many blood tests taken that her veins collapsed.

After 48 hours, the family were moved to a specialist liver unit at King's College Hospital when her liver started to fail.

Finally, after being seen by a further five doctors and losing 14 per cent of her body weight, the problem was spotted and Dorothy was placed on lactose-free bottle milk.

Allergy is technically the wrong word. The immune system is in no way involved. Enzyme deficiency is better.

After all that, the cure was extremely simple and straightforward:

Now a month on, Miss Cooper and her partner have been able to take their seven-week-old daughter home after she made a full recovery. She is being fed a soya-based milk free from lactose.

Only one birth in 45,000 in Britain is galactosemic. I'm not sure that should lift the blame on the doctors who failed to make the diagnosis. Since there were 669,531 births in 2006 in England and Wales, you would expect about 15 galactosemic babies to be born that year and every year. Surely that's enough for fifteen[!] doctors to have enough experience to figure it out.

However, the rarity of galactosemia is a serious issue. As with congenital lactose intolerance the cure has to be provided quickly. Good thing milk alternative formulas are so prevalent these days.

All the best to little Dorothy. She has a milk-free life ahead of her, which is never easy. At least she'll survive to see it.