Galactosaemia
Galactose (mono) from Lactose (di) (with glucose the other mono in lactose)
Galactose then converted to glucose for energy
Enzyme deficiency = galactosaemia
(GALK, GALT, or GALEpimerase)
GALT most common
Screened on Guthrie
Presents from birth
Galactose then converted to glucose for energy
Enzyme deficiency = galactosaemia
(GALK, GALT, or GALEpimerase)
GALT most common
Screened on Guthrie
Presents from birth
- Jaundice (74 percent)
- Vomiting (47 percent)
- Hepatomegaly (43 percent)
- Failure to thrive (29 percent)
- Poor feeding (23 percent)
- Lethargy (16 percent)
- Diarrhoea (12 percent)
- Sepsis (10 percent)