Classic Galactosemia

Classic Galactosemia

Article
Diseases & Conditions
Congenital & Genetic Disorders
Contributed byMaulik P. Purohit MD MPHMar 24, 2018

The topic Classic Galactosemia you are seeking is a synonym, or alternative name, or is closely related to the medical condition Galactosemia.

Quick Summary:

  • Galactosemia is a genetic disorder in which the body is unable to convert a sugar, called galactose, into energy. It is caused by mutations in the GALE, GALK1, and GALT genes
  • Galactose is a simple sugar, just like glucose. Glucose is the most common type of sugar that the body converts into energy. Galactose is a part of lactose, which is present in milk and milk-products, including baby formulas
  • There are 3 different types of Galactosemia, caused by mutations in different enzymes that are responsible for metabolism of galactose. They are classified as:
    • Galactosemia Type I: Classic Galactosemia Type I is the most common type, with the most severe signs and symptoms. In this type, the mutation occurs in GALT gene
    • Galactosemia Type II: Caused by mutations in the GALK1 gene, resulting in galactokinase deficiency
    • Galactosemia Type III: Caused by mutations in the GALE gene, resulting in galactose epimerase deficiency
  • Like the enzyme produced from GALT gene, the enzymes made from the GALK1 and GALE genes play a role in processing galactose. A shortage of any of these critical enzymes, allows galactose and related compounds to build up to toxic levels in the body. The accumulation of these substances, damages tissues and organs, leading to the characteristic features of Galactosemia

Please find comprehensive information on Galactosemia regarding definition, distribution, risk factors, causes, signs & symptoms, diagnosis, complications, treatment, prevention, prognosis, and additional useful information HERE.

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Maulik P. Purohit MD MPH

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