galactosemia
Sign in to saveAlso known as galactosemias, galactosaemia, galactose intolerance
Galactosemia (British galactosaemia, from Greek γαλακτόζη + αίμα, meaning galactose + blood, accumulation of galactose in blood) 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.
Key facts
- Medical condition (new).name
- Galactosemia
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- Galactose
via Wikipedia infobox
~10 min read
Encyclopedic overview
14 sectionsContents
- Symptoms and signs
- Adults
- Infants
- Children
- Cause
- Accumulation of galactose
- Reduction to galactitol
- Oxidation to galactonate
- Diagnosis
- Types
- Treatment
- See also
- References
- External links
Galactosemia (British galactosaemia, from Greek γαλακτόζη + αίμα, meaning galactose + blood, accumulation of galactose in blood) 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. Galactosemia was the second disorder found to be detectable through newborn screening methods by Robert Guthrie.
Excerpted from Wikipedia’s “galactosemia” article, available under the CC BY-SA 4.0 licence.