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Galactosemia: Galactosemia, a rare genetic disorder, hampers the body's ability to process the sugar galactose. An infant with this disorder may appear normal at ... more about Galactosemia.
Galactosemia: Any of a number of recessive disorders that cause accumulation of galactose in the blood from an inability to metabolise galactose. More detailed information about the symptoms, causes, and treatments of Galactosemia is available below.
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The US based website ClinicalTrials.gov lists information on both federally and privately supported clinical trials using human volunteers.
Some of the clinical trials listed on ClinicalTrials.gov for Galactosemia include:
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Galactosemia, a rare genetic disorder, hampers the body's ability to process the sugar galactose. An infant with this disorder may appear normal at birth, but after a few days or weeks of drinking milk (which contains galactose), the child may begin to vomit, lose weight, and develop cataracts. The liver may fail to release stored glycogen into the blood, triggering hypoglycemia. Removing milk from the diet is the usual treatment. (Source: excerpt from Hypoglycemia: NIDDK)
A genetic disease (autosomal recessive) in which an enzyme needed to metabolize galactose is deficient or absent; typically develops shortly after birth - (Source - WordNet 2.1)
Galactosemia is listed as a "rare disease" by the Office of
Rare Diseases (ORD) of the National Institutes of Health
(NIH). This means that Galactosemia, or a subtype of Galactosemia,
affects less than 200,000 people in the US population.
Source - National Institutes of Health (NIH)
Ophanet, a consortium of European partners,
currently defines a condition rare when it affects 1 person per 2,000.
They list Galactosemia as a "rare disease".
Source - Orphanet
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