Galactosemia

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Any disruption of galactose metabolism is referred to as galactosemia. Classic galactosemia is the most common type, and it is an inherited deficiency in galactose 1-phosphate uridyl transferase activity. Infants afflicted cannot thrive, and symptoms include vomiting, diarrhea after consuming milk. Liver enlargment and jaundice are also common, which may also lead to cirrhosis. Cataracts can form, which may also be followed by lathargy and retarded mental development. Level of galactose in blood is significantly increased, and galactose may also be found in urine. The definitive diagnostic criterion is the absence of the enzyme transferase in red blood cells.

The most common treatment is to remove galactose (as well as lactose) from the diet. Although this will prevent liver disease and cataract development, the majority of patients may still suffer from CNS malfunction, usually related to delayed development of language skills. Ovarian failure is also a possibility in female patients[1].

Appropriate treatment (i.e., antibiotic drugs) may be used to control infection. The emotional effects of the strict diet may require additional help and supportive measures throughout childhood. Genetic counseling is also highly recommended for persons with children who have galactosemia[2].


References:

  1. Berg J, Tymoczko J and Stryer L. (2012) Biochemistry, 7th edition, New York: WH Freeman. pg468
  2. National Organization for Rare Disorders, Galactosemia. Date accessed: [3/12/2017]. Available from :https://rarediseases.org/rare-diseases/galactosemia/
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