Definition and clinical description
Symptoms and prevalence
Diarrhoea appears from the first days of life, lactose being one of the main constituents of milk. This is a fermentation diarrhoea, resulting in the emission of numerous liquid and acidic stools, containing lactose, glucose and galactose.
Vomiting is frequent and abdominal bloating is very severe.
Malnutrition is rapid and severe. Hypercalcaemia with nephrocalcinosis with poorly understood mechanism is common, and can be life-threatening.
This disease is rare except in northern Finland where its incidence is 1/6,800 births.
The diagnosis is suspected from clinical signs of fermentation diarrhoea and associated hypercalcaemia.