Introduction and background - GAL

Classical galactosemia is an inborn error of carbohydrate metabolism, resulting from a severe deficiency of galactose-1-phosphate uridyltransferase (GALT), leading to the inability to metabolise galactose. Galactose is a carbohydrate that is predominantly present as a part of lactose in dairy products and breast milk.

Classical galactosemia is a potentially life threatening disorder if not timely diagnosed through New Born screening, although in some cases, symptoms of galactosemia become apparent earlier before results of screening are available. Dietary management initiated pre-symptomatic through an immediate restriction of galactose intake in infancy can prevent or reverse the acute symptoms. Still many patients do suffer serious long-term complications, including cognitive disability, speech problems, neurological and/or movement disorders and ovarian dysfunction in women, even if the diet is continued lifelong¹. The reasons for long-term complications are still unclear².
Classical galactosemia is characterized by neonatal complications, such as feeding problems, vomiting and diarrhea, weight loss, jaundice, cataracts, etc.

A wide range of disease prevalence of classic galactosemia was reported in a survey on galactosemia around the world, from 1:14.000 up to 1:80.000³.

New born screening is availabe in many countries, but not in all. In non-screened populations the diagnosis is established based on clinical symptoms.

Although the dietary management is well established in classic galactosemia, there is no evidence or clear best practice for the treatment of patients with classic galactosemia⁴.

References

Bosch AM. Classical galactosaemia revisited. J Inherit Metab Dis 2006;29:516-525.
Waggoner DD, Buist NR, Donnell GN. Long-term prognosis in galactosaemia: results of a survey of 350 cases. J Inherit Metab Dis. 1990;13(6):802–18.
Jumbo-Lucioni PP, Garber K et al. Diversity of approaches to classic galactosemia around the world. J Inherit Metab Dis;35(6):1037-1049>
Bosch AM, Bakker HD et al. High tolerance for oral galactose in classical galactosemia: dietary implications. Arch Dis Child. 2004;89:1034-1036

The products mentioned within the material are classified as Foods for Special Medical Purposes (FSMPs), intended for patients who have been medically diagnosed and must be under medical supervision.