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  2. Galactosemia - Wikipedia

    en.wikipedia.org/wiki/Galactosemia

    Galactosemia is generally diagnosed in neonates after symptoms are shown or during routine newborn screening. However, there have been rare cases of undiagnosed galactosemia in adults, usually presenting with developmental delay in addition to numerous other symptoms. [6]

  3. Galactose-1-phosphate uridylyltransferase deficiency - Wikipedia

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

    In most regions, galactosemia is diagnosed as a result of newborn screening, most commonly by determining the concentration of galactose in a dried blood spot. Some regions will perform a second-tier test of GALT enzyme activity on samples with elevated galactose, while others perform both GALT and galactose measurements.

  4. Galactosemic cataract - Wikipedia

    en.wikipedia.org/wiki/Galactosemic_cataract

    An impairment or deficiency in the enzyme, galactose-1-phosphate uridyltransferase (GALT), results in classic galactosemia, or Type I galactosemia. [2] Classic galactosemia is a rare (1 in 47,000 live births), autosomal recessive disease that presents with symptoms soon after birth when a baby begins lactose ingestion.

  5. Duarte galactosemia - Wikipedia

    en.wikipedia.org/wiki/Duarte_galactosemia

    Duarte galactosemia; Other names: Duarte variant galactosemia, DG, or Biochemical variant galactosemia) Leloir metabolic pathway: Galactose-1Puridylyltransferase (GALT, red font) is the middle enzyme in the Leloir pathway of galactose metabolism.

  6. 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 ...

  7. Galactokinase - Wikipedia

    en.wikipedia.org/wiki/Galactokinase

    Galactokinase deficiency, also known as galactosemia type II, is a recessive metabolic disorder caused by a mutation in human galactokinase. About 20 mutations have been identified that cause galactosemia type II, the main symptom of which is early onset cataracts. In lens cells of the human eye, aldose reductase converts galactose to ...

  8. 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 ...

  9. Beutler test - Wikipedia

    en.wikipedia.org/wiki/Beutler_test

    This medical diagnostic article is a stub. You can help Wikipedia by expanding it.