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Not a little, but none — and timing decides, not strictness.
Also known as: galactose metabolism disorder · GALT deficiency
Open in the tool — with search and all the links →This compilation is for information and replaces neither medical diagnosis nor treatment. If you have symptoms, see a doctor.
Galactose is one of the two halves of milk sugar. Normally an enzyme in the liver converts it so the body can use it. In classic galactosaemia that enzyme — called GALT — is almost entirely missing. Galactose then builds up as an intermediate that harms mainly the liver, kidneys, brain and the lens of the eye. This is not an intolerance where small amounts are fine: here it is zero.
The condition is inherited, and only appears when both parents pass on the same disposition. Both are usually perfectly healthy and unaware of it. For each further child of the same couple the probability is 25 per cent. About one newborn in 48,000 is affected; depending on the programme and the cut-off, more frequent figures are also quoted.
What decides the course is timing. In Switzerland galactosaemia is part of newborn screening and is found in the first days of life. If the feed is switched at once to a galactose-free one — in infants usually soy-based — the acute signs disappear within days. Without treatment a newborn feeds poorly, turns yellow, the liver suffers, and a severe infection can follow. That is exactly why screening exists. An abnormal screening result with a suspicion of the classic form counts as an emergency: the newborn is presented at once as an inpatient at a metabolic centre, before confirmation is complete. For Germany a frequency of about one case in 70,000 newborns is given.
An abnormal screen does not automatically mean classic galactosaemia. In the Duarte variant about 15 to 33 per cent of enzyme activity remains; most experts do not consider a diet necessary there. Anyone with an abnormal result should first know which form it is — the figures on the later points apply to the classic form, not to Duarte.
Both involve milk sugar and yet are nothing alike. Lactose intolerance is common, harmless and a question of amount — most people manage a glass of milk. Galactosaemia is rare, inborn and a question of none. A “low lactose” filter is not enough for it.
If both parents are carriers, the probability is 25 per cent for each further child — anew with every pregnancy, independent of the previous ones. Genetic counselling clarifies this for the individual family.
Metabolic medicine, dietetics, speech therapy, later gynaecology. That is not a sign something is going wrong, it is the usual set-up — much of it runs preventively rather than waiting for a problem.
Poor feeding, vomiting, little weight gain, jaundice, an enlarged liver. It starts as soon as milk is taken, so within the first days. With the change of feed these signs recede quickly.
A cataract can form in infancy. It is one of the few signs that often recedes again under the diet.
Even when well treated, about 56 per cent of children from age three have speech problems; in roughly a quarter these resolve. Early speech therapy is therefore usual and not delayed.
In reviews, about 45 per cent of children from age six showed developmental delay and about 18 per cent from age five had fine motor difficulties such as tremor or coordination problems. The range is wide: many go through ordinary schooling and training.
About 81 per cent of girls and women with classic galactosaemia show signs of premature ovarian insufficiency. It affects puberty, cycle and fertility and is raised early in follow-up — pregnancies do occur. In boys, testicular function is usually not affected.
The most important sentence for parents: the body makes galactose itself, from its own building blocks, independently of food. So the later points cannot be fully prevented even with a very strict diet. They are not a sign that anyone did anything wrong.
Anyone eating without dairy for life rarely covers the requirement from food alone. Calcium is therefore planned in from the start and checked regularly.
Milk and everything from it: breast milk, cow’s milk, milk-based infant formula, yoghurt, cheese, cream, butter, whey. Plus anything with milk components worked in — baked goods, sauces, sausage, ready meals. The ingredient list becomes daily reading, and a dietitian helps more with it than any list on the internet.
For the infant a galactose-free special formula, usually soy-based. Later an ordinary milk-free diet. Because milk is the main source of calcium, calcium belongs in the plan from the start — through calcium-rich foods and usually as a supplement too.
Small amounts of bound galactose also sit in pulses and some vegetables. Whether and how strictly these must be avoided is handled differently and has loosened over the years. That is a question for the treating team, not for a table.
AWMF 024-012 · S2k · 2025-05 — in force
Neugeborenen-Screening auf angeborene Stoffwechselstörungen
checked 2026-09