Galactose malabsorption(intolerance), Galactosemia

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Glucose and galactose are two common sugars, which are present in many foods. They are found as free sugars, but also in combination with other sugars (e.g. sucrose - table sugar - is made up of glucose and fructose, or lactose (milk sugar) is made up of glucose and galactose). Galactosemia is a rare genetic metabolic disorder that affects an individual's ability to metabolize the sugar galactose properly. Although the sugar, lactose, metabolizes to galactose, galactosemia is not related to and should not be confused with lactose intolerance. Galactosemia follows an autosomal recessive mode of inheritance that confers a deficiency in an enzyme responsible for adequate galactose degradation. The malabsorption and secondary intolerance of glucose and galactose is due to a genetic abnormality on chromosome 22 regulating a sugar transporter protein (SGLT1) and leading to a decreased ability to absorb the sugars across the lining (mucosa) of the small intestine. Glucose-galactose malabsorption is rare, with only a few hundred cases identified worldwide. Up to 10% of the population may have a slightly reduced capacity for glucose absorption without significant associated health problems. This condition may be a milder variation of glucose-galactose malabsorption. Malabsorption and intolerance of galacto-olicosaccharides as part of a general FODMAP intolerance is common in functional bowel syndromes, such as Irritable Bowel Syndrome (Fructose intolerance). Both parents of the affected individual will be carriers of the genetic defect, but without symptoms (autosomal recessive condition).


Laboratory Test Procedures:

enlarged liver
weight gain
muscle spasms

Direct Bilirubin
Ketones (URINE TEST)
Genital (Reproductive) Culture
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