Galactosemia

Galactosemia (British Galactosaemia) is a rare genetic metabolic disorder that affects an individual's ability to metabolize the sugar galactose properly. Although the sugar, lactose, metabolizes to galactose, galactosemia is not related to and should not be confused with lactose intolerance. Galactosemia follows an autosomal recessive mode of inheritance that confers a deficiency in an enzyme responsible for adequate galactose degradation.

Goppert 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 Caucasians. In other populations the incidence rate differs. Galactosemia is also very common within the Irish Traveller population.

Read more about GalactosemiaCause, Types, Diagnosis, Treatment

Other articles related to "galactosemia":

Galactose-1-phosphate Uridylyltransferase Deficiency
... Galactose-1-phosphate uridylyltransferase deficiency, also called galactosemia type 1, classic galactosemia or GALT deficiency, is the most common ... Treatment of galactosemia is most successful if initiated early, and includes dietary restriction of lactose intake ... Because early intervention is key, galactosemia is included in newborn screening programs in many areas ...
Galactose Epimerase Deficiency - Details - Genetic Basis
... Various human GALE mutations resulting in Type III galactosemia have been identified ... of proteolytic digestion act causatively in Type III galactosemia ... specificity constant Severe generalized galactosemia ...
Galactosemic Cataract - Galactosemia
... Main article Galactosemia See also Galactose Galactosemia is one of the most mysterious of the heavily-researched metabolic diseases ... Galactosemia used to be confused with diabetes due to the presence of sugar in a patient’s urine ... have allowed the exact identity of those sugars to be determined, thereby distinguishing galactosemia from diabetes ...
Galactose Epimerase Deficiency - Details - Symptoms
... Symptoms of congenital Type III Galactosemia are apparent from birth, but vary in severity depending on whether the peripheral or generalized disease form is present ... Renal failure Splenomegaly Cataracts Studies of Type III galactosemia symptoms are mostly descriptive, and precise pathogenic mechanisms remain unknown ... This is largely due to a lack of functional animal models of classic galactosemia ...
Galactosemia - Treatment
... The only treatment for classic galactosemia is eliminating lactose and galactose from the diet ... and a restricted diet, however, some individuals with galactosemia experience long-term complications such as speech difficulties, learning disabilities ... Symptoms have not been associated with Duarte galactosemia, and many individuals with Duarte galactosemia do not need to restrict their diet at all ...