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You are here : AllRefer.com > Health > Diseases & Conditions > Galactosemia

Galactosemia

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Definition

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Alternate Names : Galactokinase Deficiency, Galactose-1-Phosphate Uridyl Transferase Deficiency, Galactose-6-Phosphate Epimerase Deficiency


Definition

Galactosemia is the inability of the body to use (metabolize) the simple sugar galactose (causing the accumulation of galactose 1-phosphate), which then reaches high levels in the body, causing damage to the liver, central nervous system, and various other body systems.

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Overview, Causes, & Risk Factors

Galactosemia is an inherited disorder (transmitted as an autosomal recessive trait). It occurs at a rate of approximately 1 out of 60,000 births. There are 3 forms of the disease -- galactose-1 phosphate uridyl transferase deficiency (classic galactosemia) and deficiency of galactose kinase or galactose-6-phosphate epimerase. Of these, the galactose-1-phosphate transferase deficiency is the most severe (and more common).

People with galactosemia are unable to fully metabolize the simple sugar galactose. Galactose makes up half of the sugar, called lactose, that is found in milk. Lactose is called a disaccharide (di meaning 2 and saccharide meaning sugar) since lactose is made up of two sugars, galactose and glucose, bound together.

If an infant with galactosemia is given milk, derivatives of galactose builds up in the infants system causing damage to the liver, brain, kidneys, and eyes. Individuals with galactosemia cannot tolerate any form of milk (human or animal), or must carefully watch intake of other galactose-containing foods. Exposure to milk products may result in liver damage, mental retardation, cataract formation, and kidney failure.

After drinking milk for a few days, a newborn infant with galactosemia, will develop intolerance of feeding, jaundice, vomiting, lethargy, irritability, and convulsions. The liver is enlarged and the blood sugar may be low. Continued feeding of milk products to the infant leads to cirrhosis of the liver, cataract formation in the eye (which may result in partial blindness), and mental retardation.



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Definition
Galactosemia Overview, Causes, & Risk Factors
Galactosemia Symptoms & Signs
Galactosemia Prevention
Galactosemia Diagnosis & Tests
Galactosemia Treatment
Galactosemia Prognosis
Galactosemia Complications
Galactosemia Support Groups
Calling Your Health Care Provider
Pictures & Images

Topics that might be of interest to you

Diseases & Conditions

Ascites
Cataract
Cirrhosis
Hypoglycemia
Mental Retardation

Tests & Exams

Aminoaciduria
Galactose-1-Phosphate Uridyltransferase

Other Topics

Autosomal Recessive
Enzyme
Fatigue
Genetic Counseling and Prenatal Diagnosis
Hepatomegaly
Irritability
Jaundice - Yellow Skin
Metabolize
Nausea and Vomiting
Poor Feeding in Infants
Protein in Diet
Seizures
Weight Gain - Unintentional

Review Date : 1/31/2002
Reviewed By : David G. Brooks, M.D., Ph.D., Division of Medical Genetics, University of Pennsylvania Medical Center, Philadelphia, PA. Review provided by VeriMed Healthcare Network.

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