Hypergalactosemia

What it means

The concentration of galactose in the blood circulation is above the upper limit of normal.

Hypergalactosemia is used here to mean the increased concentration of galactose in the blood. Note that the word galactosemia is occasionally used with the same meaning but more commonly denotes the disease entity called galactosemia caused by mutations in the galactose-1-phosphate uridyltransferase gene (MIM:230400).

Rare diseases that can present with this3

The range is how often this sign appears among people diagnosed with each disease — it is not a probability of having any of them. Many of these signs also occur in common, non-rare conditions. A sign on this page is a conversation to have with a clinician, not a conclusion.

Part of the broader category

Also called: Elevated circulating galactose concentration · Elevated galactose concentration · Elevated galactose level · Elevated galactose level in blood · Galactosemia · Increased galactose concentration · Increased galactose level · Increased galactose level in blood