Library · Disease
Galactosemia
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Galactosemia is an inborn error of metabolism, meaning a defect present from birth in the way the body processes a food. What it cannot break down properly is galactose, a simple sugar that travels inside lactose, the sugar in milk.
In the classic form, an enzyme with a long name is missing: galactose-1-phosphate uridylyltransferase, the one the GALT gene makes. Without that enzyme, galactose-1-phosphate stalls and never gets converted into UDP-galactose. It is an assembly line missing one worker. It is inherited in an autosomal recessive pattern, so both parents have to be carriers.
The signs come from exactly that, from being unable to use galactose to make energy. And in the classic form, if it goes untreated, serious complications appear within days of birth.
In brief
Galactosemia is an inborn error of metabolism: the body cannot properly break down galactose, a sugar found in the lactose of milk.
The classic form lacks the enzyme galactose-1-phosphate uridylyltransferase, from the GALT gene, and without it galactose-1-phosphate does not become UDP-galactose; it is inherited in an autosomal recessive pattern.
It is an assembly line missing one worker.
The signs come from being unable to use galactose to make energy, and in the untreated classic form serious complications appear within days of birth.
Sources (2)
- National Center for Biotechnology Information, StatPearls PublishingGalactose-1-Phosphate Uridyltransferase Deficiency, StatPearlsPublished
- MedlinePlus Genetics, U.S. National Library of MedicineGalactosemia, MedlinePlus GeneticsPublished
This page explains the topic in general terms; it does not tell anyone what treatment to follow.
Updated