Galactosemia
| Galactosemia | |
|---|---|
 |
|
| Galactose | |
| Classification and external resources | |
| Specialty | endocrinology |
| ICD-10 | E74.2 |
| ICD-9-CM | 271.1 |
| OMIM |
230400 606999 Epimerase Deficiency Galactosemia 230350 606953 |
| MedlinePlus | 000366 |
| eMedicine | ped/818 |
| Patient UK | Galactosemia |
| MeSH | D005693 |
| GeneReviews | |
Galactosemia (British galactosaemia) is a rare genetic metabolic disorder that affects an individual's ability to metabolize the sugar galactose properly. Galactosemia follows an autosomal recessive mode of inheritance that confers a deficiency in an enzyme responsible for adequate galactose degradation.
Friedrich Goppert (1870–1927), a German physician, first described the disease in 1917, with its cause as a defect in galactose metabolism being identified by a group led by Herman Kalckar in 1956.
Its incidence is about 1 per 60,000 births for people of European ancestry. In other populations the incidence rate differs. Galactosaemia is about one hundred times more common (1:480 births) within the Irish Traveller population.
Lactose in food (such as dairy products) is broken down by the enzyme lactase into glucose & galactose. In individuals with galactosemia, the enzymes needed for further metabolism of galactose are severely diminished or missing entirely, leading to toxic levels of galactose 1-phosphate in various tissues as in the case of classic galactosemia, resulting in hepatomegaly (an enlarged liver), cirrhosis, renal failure, cataracts, vomiting, seizure, hypoglycemia, lethargy, brain damage, and ovarian failure. Without treatment, mortality in infants with galactosemia is about 75%.
...
Wikipedia