Gourt > Health > Conditions and Diseases > Neurological Disorders > Brain Diseases > Metabolic > Galactosemia
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Galactosemia is a rare genetic metabolic disorder which affects an individual's ability to properly digest the sugar galactose. Lactose in food (such as dairy products) is broken down by the body into glucose and galactose. Normally, galactose is then converted into glucose by the enzyme GALT (galactose-1-phosphate uridylyltransferase). In individuals with galactosemia, GALT activity is severely diminished, leading to toxic levels of galactose to build up in the blood, resulting in hepatomegaly (an enlarged liver), renal failure, cataracts, and brain damage. Without treatment, mortality in infants with galactosemia is about 75%.
Goppert first described the disease in 1917. Its incidence is about 1 per 47,000 births (classic type). It is much rarer in Japan.
More on [ Galactosemia ]
Genetic Disorders
Rare Disorders :: Conditions and Diseases
Detriments :: Effects
Dairy Free :: Special Diets
TY â@NeoGenLabs: RT @Beatepdx: #Galactosemia in PDX: Happily Ever After â How #Newbornscreening Saved http://t.co/r3kInHTS ⦠@ScreenBabiesâ
Beatepdx (beate weiss-krull) Thu, 02 Feb 2012 04:56:49 -0000
TY “@NeoGenLabs: RT @Beatepdx: #Galactosemia in PDX: Happily Ever After – How #Newbornscreening Saved http://t.co/r3kInHTS … @ScreenBabies”
RT @Beatepdx: #Galactosemia in PDX: Happily Ever After â How #Newbornscreening Saved M... http://t.co/spearZsr ⦠@ScreenBabies...
NeoGenLabs (NeoGen Labs Pvt Ltd) Thu, 02 Feb 2012 04:38:56 -0000
RT @Beatepdx: #Galactosemia in PDX: Happily Ever After – How #Newbornscreening Saved M... http://t.co/spearZsr … @ScreenBabies...
Galactosemia RSS feed
European Galactosaemia Society - Information about the EGS, galactosaemia, the national groups, the diet and events and publications.
Galactosemia - Explains what it is, the symptoms, methods for diagnosis, and treatment options.
Meta Description: [ biliary atresia,liver disease,liver,children,liverkids ]
MedlinePlus: Galactosemia - Includes symptoms, tests, treatment, and prevention.
National Library of Medicine: GALC - The alternate names, a summary and list of major features of galactocerebrosidase deficiency.
NORD - Galactosemia - Offers the synonyms, a general discussion and further resources.
Meta Description: [ National Organization for Rare Disorders is dedicated to helping people with rare, orphan diseases. Rarediseases.org contains information on the prevention, treatment and cure of rare diseases. ]
Parents of Galactosemic Children, Inc. - Information about galctosemia and a resource for families living with galactosemia.
Meta Description: [ info and resources about galactosemia ]
Pediatric Oncall - Presented is a case study of galactosemia in a four month old female child.
Meta Description: [ GALACTOSEMIA Case Reports Pediatric Oncall ]
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