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.
In the Vinony graph
Vinony's link graph records 126 inbound references to galactosemia, and connects out to premature ovarian failure, Online Mendelian Inheritance in Man and Irish Travellers.
Vinony files it under 1917 introductions, Galactose and Inborn errors of carbohydrate metabolism.
Vinony links it to 31 Wikipedia language editions.
Key facts
- Medical condition (new).name
- Galactosemia
- Medical condition (new).image
- Beta-D-Galactopyranose.svg
- Medical condition (new).width
- 122
- Medical condition (new).caption
- Galactose
via Wikipedia infobox
Wikidata facts
- Subclass of
- disease
- Image
- Bebe Galactosemia.jpg
Show 7 more facts
- NCI Thesaurus ID
- C84723
- health specialty
- endocrinology
- symptoms and signs
- lactose intolerance
- exact match
- identifiers.org/doid/DOID:9870
- ICD-9-CM
- 271.1
- on focus list of Wikimedia project
- WikiProject Medicine
- Commons category
- Galactosemia
via Wikidata · CC0
~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.