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  2. Galactosemia - Wikipedia

    en.wikipedia.org/wiki/Galactosemia

    Galactosemia is sometimes confused with lactose intolerance, but galactosemia is a more serious condition. Lactose intolerant individuals have an acquired or inherited shortage of the enzyme lactase , and experience abdominal pains after ingesting dairy products, but no long-term effects.

  3. Galactose-1-phosphate uridylyltransferase deficiency - Wikipedia

    en.wikipedia.org/wiki/Galactose-1-phosphate_urid...

    It is an autosomal recessive metabolic disorder that can cause liver disease and death if untreated. Treatment of galactosemia is most successful if initiated early and includes dietary restriction of lactose intake. Because early intervention is key, galactosemia is included in newborn screening programs in many areas.

  4. Galactosemic cataract - Wikipedia

    en.wikipedia.org/wiki/Galactosemic_cataract

    The treatment for galactosemic cataract is no different from general galactosemia treatment. In fact, galactosemic cataract is one of the few symptoms that is actually reversible. Infants should be immediately removed from a galactose diet when symptoms present, and the cataract should disappear and visibility should return to normal. [ 12 ]

  5. Galactose epimerase deficiency - Wikipedia

    en.wikipedia.org/wiki/Galactose_epimerase_deficiency

    Galactose epimerase deficiency has an autosomal recessive pattern of inheritance.. Galactose epimerase deficiency is an autosomal recessive disorder, [5] which means the defective gene is located on an autosome, and two copies of the defective gene - one from each parent - are required to inherit the disorder.

  6. Galactokinase deficiency - Wikipedia

    en.wikipedia.org/wiki/Galactokinase_deficiency

    Unlike classic galactosemia, which is caused by a deficiency of galactose-1-phosphate uridyltransferase, galactokinase deficiency does not present with severe manifestations in early infancy. Its major clinical symptom is the development of cataracts during the first weeks or months of life, as a result of the accumulation, in the lens, of ...

  7. Galactose 1-phosphate - Wikipedia

    en.wikipedia.org/wiki/Galactose_1-phosphate

    Deficiency of enzymes found in this pathway can result in galactosemia; therefore, diagnosis of this genetic disorder occasionally involves measuring the concentration of these enzymes. [3] One of such enzymes is galactose-1-phosphate uridylyltransferase (GALT). The enzyme catalyzes the transfer of a UDP-activator group from UDP-glucose to ...

  8. Duarte galactosemia - Wikipedia

    en.wikipedia.org/wiki/Duarte_galactosemia

    While it remains unclear whether any of these metabolites contribute to the long-term developmental complications experienced by so many older children with classic galactosemia, the theoretical possibility that they might cause problems in children with DG serves to motivate some healthcare providers to recommend dietary galactose restriction ...

  9. Inborn errors of carbohydrate metabolism - Wikipedia

    en.wikipedia.org/wiki/Inborn_errors_of...

    Approximately 70% of galactosemia-causing alleles have a single missense mutation in exon 6. A milder form of galactosemia, called Galactokinase deficiency, is caused a lack of the enzyme uridine diphosphate galactose-4-epimerase which breaks down a byproduct of galactose. This type of is associated with cataracts, but does not cause growth ...