Galactosemia

SEMESTER 1 SESI 2011/2012
SBK 3013 PRINCIPLES OF BIOCHEMISTRY
CASE STUDY ABNORMALITIES CARBOHYDRATE - GALACTOSEMIA
NUR HAFIZAH BT ABDUL HADI NAZIRATUL ASYIKIN BT MOHD SAM NAME FAIZNUR BT ISHAK WIJAYANTI BINTI AKHMAD LECTURER DR ROSMILAH
GALACTOSEMIA
History of Galactosemia
Galactosemia was first discovered in 1908. Von Ruess, in a 1908 publication entitled, "Sugar Excretion in Infancy," reported on a breast-fed infant with failure to thrive, enlargement of the liver and spleen, and "galactosuria". This infant ceased to excrete galactose through the urine when milk products were removed from the diet. The infant, however, later died because of other complications (the baby had been given tea laced with cognac as treatment as well). An autopsy revealed cirrhosis of the liver, which they thought was due to the infant's alcohol ingestion. Though confirmation of the diagnosis was not possible at that time, it has been generally accepted that Von Ruess was the first to report on a patient with galactosemia. By 1917, "galactosuria" was a broadly recognized inherited disorder and was treated by removal of milk products from the diet. The disease was first recognized and described in detail in 1935 by Mason and Turner. Leloir worked out the metabolic pathway and the process of sugar-nucleotides and won the Nobel prize in Chemistry in 1970 for his work. He and coworkers elucidated the pathway for converting galactose to glucose in the early 50's. Although, the clinicians recognized galactosemia very early in the century, the defective gene that caused it was not found until 1956. Another major break-through was when it was first found to be detectable through a newborn screening method in 1963. This method was developed by Guthrie and Paigen. Galactosemia was the second disorder found to be detectable through newborn screening methods by Robert Guthrie.
What Is Galactosemia?
Galactosemia is an inherited disorder characterized by an inability of the body to utilize galactose. Galactosemia means "galactose in the blood ". Galactose is a type of food sugar found mainly in dairy products, and is produced within the body as well. Galactose makes up half of lactose, the sugar found
in milk. Lactose is called a disaccharide (di meaning 2 and saccharide meaning sugar) because it is made up of two sugars galactose and glucose, bound together. The main source of galactose in the diet is milk products. During digestion, lactose is broken down into the sugars glucose and galactose. Glucose can be used as a source of energy by the body, but galactose needs to be further broken down by a specific chemical (enzyme) before it can be utilized. Galactosemia is the inability of the body to use or to metabolize the simple sugar galactose, causing the accumulation of galactose 1-phosphate in the body. This causes damage to the liver, central nervous system, and other body systems. If an infant with galactosemia is given milk, derivatives of galactose build up in the infant's system, causing damage to the liver, brain, kidneys, and eyes. Individuals with galactosemia cannot tolerate any form of milk either milk from human or animal and 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 with galactosemia will refuse to eat and develop jaundice, vomiting, lethargy, irritability, and convulsions. The liver will be 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.
What are the types of Galactosemia?

There are 3 types of the galactosemia which are the galactose-1 phosphate uridyl transferase deficiency or often known as classic galactosemia, the most common and most severe form, deficiency of galactose kinase and deficiency of galactose-6-phosphate epimerase.
How Galactosemia Occur?

Classic galactosemia results from a defect in the enzyme galactose-1-phosphate uridyl transferase. Galactokinase-deficiency galactosemia, the rarer form of this disorder, stems from a deficiency of the enzyme galactokinase. In individuals with galactosemia, the enzymes needed for further metabolism of galactose are severely diminished or missing entirely, leading to toxic levels of galactose 1-phosphate in various tissues. In both forms of galactosemia, the inability to normally metabolize the sugar galactose (which is mainly formed by digestion of the disaccharide lactose thats present in milk) causes galactose accumulation.
LACTOSE
GLUCOSE
GALACTOSE
Galactosemia is inherited in an autosomal recessive manner, meaning a child must inherit one defective gene from each parent to show the disease. Heterozygotes are carriers, because they inherit one normal gene and one defective gene. Carriers show no symptoms of galactosemia.
What causes the galactose-1-phosphate uridyl transferase (GALT) enzyme to be absent or not working correctly?
Genes tell the body to make various enzymes. People with galactosemia have a pair of genes that do not work correctly. Due of the changes in this pair of genes, the GALT enzyme either does not work properly or is not made at all.
What are the symptoms of galactosemia?

In children who are homozygous for the classic galactosemia gene, signs are evident at birth or begin within a few days after milk ingestion, and include failure to thrive, vomiting, and diarrhea. Other clinical effects include liver damage (which causes jaundice, hepatomegaly, cirrhosis, and ascites), splenomegaly, galactosuria, proteinuria, and aminoaciduria. Cataracts may also be present at birth or develop later. Pseudo tumor cerebral may occur.
CATARACT
Continued ingestion of galactose - or lactose - containing foods may cause mental retardation, malnourishment, progressive hepatic failure, and death from the still-unknown process of galactose metabolites accumulating in body tissues. Although treatment may prevent mental impairment, galactosemia can produce a short attention span, difficulty with spatial and mathematical relationships, and apathetic, withdrawn behavior. Cataracts may be the only sign of galactokinase deficiency, resulting from the accumulation of galactitol, a metabolic by-product of galactose, in the lens.
What are the treatments for galactosemia?

Once the disease is recognized, treatment consists of strictly avoiding all milk, milk-containing products, and other foods that contain galactose. The infant is fed soy formula, meat-base formula, protein hydrolysate formula, or another lactose-free formula. The infant gains weight; liver anomalies, nausea, vomiting, galactosemia, proteinuria, and aminoaciduria disappear; and cataracts regress. As the
child grows, a balanced, galactose-free diet must be maintained. A pregnant woman whos heterozygous or homozygous for galactosemia should also follow a galactose-restricted diet. Such a diet supports normal growth and development and may delay symptoms in the neonate.

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SEMESTER 1 SESI 2011/2012

SBK 3013 PRINCIPLES OF BIOCHEMISTRY

CASE STUDY ABNORMALITIES CARBOHYDRATE - GALACTOSEMIA

What are the types of Galactosemia?

How Galactosemia Occur?

What are the symptoms of galactosemia?

What are the treatments for galactosemia?

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