Galactosemia
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This document provides information about galactosemia, a genetic disorder that prevents the body from breaking down the sugar galactose. It discusses the types of galactosemia, including classic galactosemia and Duarte galactosemia. Classic galactosemia is treated by eliminating galactose from the diet as it can cause serious damage if not broken down properly. The disorder is diagnosed through newborn screening and confirmed with genetic testing. Lifelong treatment involves avoiding dairy products to prevent galactose intake while supplementing lost nutrients.
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Galactosemia
Galactosemia is a rare genetic disorder that affects the body's ability to break down galactose, a sugar found in milk and dairy products. There are three main types depending on which enzyme is deficient in the galactose metabolic pathway. Classical galactosemia is caused by a deficiency in the GALT enzyme and can cause jaundice, vomiting, poor growth, and long term issues like cataracts and intellectual disabilities if not treated early. It is diagnosed through newborn screening or prenatal testing. Treatment involves a strict lifelong diet that avoids all sources of galactose to prevent symptoms and complications. While there is no cure, following the diet allows patients to live healthy lives.
What is galactosemia
Galactosemia is a genetic disorder where the body cannot break down galactose, a sugar found in milk. This causes galactose to build up and potentially damage the brain, eyes, liver and kidneys. The only treatment is a lifelong galactose-restricted diet that avoids foods containing lactose or milk products. Strict adherence to the diet can prevent complications, which may include speech delays, movement problems and eye cataracts.
Galactosemia ppt
Galactosemia is a rare genetic metabolic disorder caused by a deficiency of the enzyme galactose-1-phosphate uridyltransferase, which is necessary for galactose metabolism. There are three main types depending on the specific enzyme deficiency. It is inherited in an autosomal recessive pattern and causes an inability to properly break down and use the sugar galactose. If left untreated, it can cause serious issues such as liver damage, cataracts, intellectual disabilities and more. Treatment involves a strict lifelong galactose-restricted diet.
Galactosemia in newborns
Galactosemia is a rare metabolic disorder that prevents the body from properly processing the sugar galactose. There are three main types of galactosemia which are differentiated by the specific enzyme deficiency. Type I is the classic form caused by a deficiency of galactose 1-phosphate uridyltransferase. Type II is milder and caused by a galactokinase deficiency. Type III is a rare form caused by a galactose epimerase deficiency. Symptoms in infants include jaundice, vomiting, poor feeding, and lethargy. It can be diagnosed through newborn screening or by measuring galactose levels and enzyme activity. Treatment requires removing lactose and dairy from the diet
Galactosemia
Galactosemia is a genetic disorder caused by a mutation in the GALT gene that results in the inability to break down the sugar galactose. It primarily affects babies and can cause failure to thrive, jaundice, infections, and cataracts if not treated by removing galactose from the diet. People with Romani descent have a higher risk of carrying the autosomal recessive mutation. The mutation changes an amino acid in the GALT enzyme needed to break down galactose, leading to its buildup in the blood if untreated.
Galactosemia LB
Galactosemia is a hereditary disease caused by a lack of enzymes needed to metabolize galactose. There are three main types depending on the deficient enzyme. Classic galactosemia is the most common and severe type, resulting from no GALT activity. Symptoms manifest in the first days of life if galactose is consumed and include lethargy, poor feeding, jaundice, and vomiting. Treatment requires strict avoidance of all milk and dairy products and use of soy formula or lactose-free formula instead. With early diagnosis and treatment, people can live relatively normal lives, though mild mental impairment may still develop.
Galactosemia
Galactosemia is a rare genetic disorder caused by a deficiency of the enzyme galactose-1-phosphate uridyltransferase, which is responsible for breaking down the sugar galactose. This causes galactose and its metabolites to accumulate and can damage the liver, kidneys, and brain if not treated. The only treatment is eliminating all sources of galactose from the diet. If untreated, it can cause complications like cataracts, speech problems, poor bone density, and intellectual disabilities. The document provides details on the causes, types, symptoms, diagnosis, and management of galactosemia.
Hereditary fructose intolerance (hfi)
Hereditary Fructose Intolerance (HFI) is a condition where the body has difficulty metabolizing fructose due to a deficiency of the enzyme fructose-1-phosphate aldolase. This causes fructose-1-phosphate to accumulate and inhibit glycogen and glucose production, potentially leading to hypoglycemia, liver failure, and death if not treated. The only treatment is a lifelong strict fructose and sucrose-free diet to avoid all sources of fructose.
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Galactosemia
Galactosemia is a rare genetic disorder that affects the body's ability to break down galactose, a sugar found in milk and dairy products. There are three main types depending on which enzyme is deficient in the galactose metabolic pathway. Classical galactosemia is caused by a deficiency in the GALT enzyme and can cause jaundice, vomiting, poor growth, and long term issues like cataracts and intellectual disabilities if not treated early. It is diagnosed through newborn screening or prenatal testing. Treatment involves a strict lifelong diet that avoids all sources of galactose to prevent symptoms and complications. While there is no cure, following the diet allows patients to live healthy lives.
What is galactosemia
Galactosemia is a genetic disorder where the body cannot break down galactose, a sugar found in milk. This causes galactose to build up and potentially damage the brain, eyes, liver and kidneys. The only treatment is a lifelong galactose-restricted diet that avoids foods containing lactose or milk products. Strict adherence to the diet can prevent complications, which may include speech delays, movement problems and eye cataracts.
Galactosemia ppt
Galactosemia is a rare genetic metabolic disorder caused by a deficiency of the enzyme galactose-1-phosphate uridyltransferase, which is necessary for galactose metabolism. There are three main types depending on the specific enzyme deficiency. It is inherited in an autosomal recessive pattern and causes an inability to properly break down and use the sugar galactose. If left untreated, it can cause serious issues such as liver damage, cataracts, intellectual disabilities and more. Treatment involves a strict lifelong galactose-restricted diet.
Galactosemia in newborns
Galactosemia is a rare metabolic disorder that prevents the body from properly processing the sugar galactose. There are three main types of galactosemia which are differentiated by the specific enzyme deficiency. Type I is the classic form caused by a deficiency of galactose 1-phosphate uridyltransferase. Type II is milder and caused by a galactokinase deficiency. Type III is a rare form caused by a galactose epimerase deficiency. Symptoms in infants include jaundice, vomiting, poor feeding, and lethargy. It can be diagnosed through newborn screening or by measuring galactose levels and enzyme activity. Treatment requires removing lactose and dairy from the diet
Galactosemia
Galactosemia is a genetic disorder caused by a mutation in the GALT gene that results in the inability to break down the sugar galactose. It primarily affects babies and can cause failure to thrive, jaundice, infections, and cataracts if not treated by removing galactose from the diet. People with Romani descent have a higher risk of carrying the autosomal recessive mutation. The mutation changes an amino acid in the GALT enzyme needed to break down galactose, leading to its buildup in the blood if untreated.
Galactosemia LB
Galactosemia is a hereditary disease caused by a lack of enzymes needed to metabolize galactose. There are three main types depending on the deficient enzyme. Classic galactosemia is the most common and severe type, resulting from no GALT activity. Symptoms manifest in the first days of life if galactose is consumed and include lethargy, poor feeding, jaundice, and vomiting. Treatment requires strict avoidance of all milk and dairy products and use of soy formula or lactose-free formula instead. With early diagnosis and treatment, people can live relatively normal lives, though mild mental impairment may still develop.
Galactosemia
Galactosemia is a rare genetic disorder caused by a deficiency of the enzyme galactose-1-phosphate uridyltransferase, which is responsible for breaking down the sugar galactose. This causes galactose and its metabolites to accumulate and can damage the liver, kidneys, and brain if not treated. The only treatment is eliminating all sources of galactose from the diet. If untreated, it can cause complications like cataracts, speech problems, poor bone density, and intellectual disabilities. The document provides details on the causes, types, symptoms, diagnosis, and management of galactosemia.
Hereditary fructose intolerance (hfi)
Hereditary Fructose Intolerance (HFI) is a condition where the body has difficulty metabolizing fructose due to a deficiency of the enzyme fructose-1-phosphate aldolase. This causes fructose-1-phosphate to accumulate and inhibit glycogen and glucose production, potentially leading to hypoglycemia, liver failure, and death if not treated. The only treatment is a lifelong strict fructose and sucrose-free diet to avoid all sources of fructose.
Galactosemia ppt
Galactosemia is a condition where the body cannot break down the sugar galactose, which is found in milk. Symptoms include jaundice, vomiting, poor weight gain, and irritability. The treatment is removing all lactose and milk products from the diet, and using lactose-free formulas for infants. Galactosemia is inherited in an autosomal recessive pattern and must be managed through a lifelong lactose-free diet.
Galactosemia by Farshid Mokhberi
Galactosemia is a rare genetic disorder that affects the body's ability to properly metabolize the sugar galactose. It is caused by a deficiency in one of the three enzymes (GALT, GALK1, GALE) required to break down galactose through the Leloir pathway. Left untreated, galactosemia can cause intellectual disability, liver and kidney damage, cataracts, and other issues. It is typically detected through newborn screening and treatment involves eliminating galactose and lactose from the diet through life.
Galactosemia
Galactosemia is a genetic disorder caused by a deficiency of enzymes involved in galactose metabolism, leading to an accumulation of galactose and its metabolites in the body. There are three main types caused by deficiencies in galactose-1-phosphate uridylyltransferase (GALT), galactokinase (GALK), or galactose-4-epimerase (GALE). Symptoms include jaundice, poor feeding, vomiting, and long term issues such as speech delays, intellectual disability, and ovarian dysfunction. Treatment requires strict lifelong avoidance of galactose in the diet through exclusion of milk and milk products, along with calcium and soy or hydrolyzed protein formula supplementation.
Galactosemia
Galactosemia is caused by a deficiency of the enzyme galactose-1-phosphate uridyltransferase, which is an inborn error of metabolism. This causes galactose-1-phosphate to accumulate in the liver, inhibiting other enzymes and causing hypoglycemia. Clinical features include liver enlargement, jaundice, cataracts, mental retardation, and accumulation of galactose in the urine. Treatment involves removing lactose from the diet to prevent symptoms; special diets may be stopped after 4 years when another enzyme becomes active.
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- Early detection of IEM is important to prevent permanent mental retardation and other serious consequences through timely intervention. Newborn screening aims to recognize disorders in the first week of life.
- Tandem mass spectrometry allows screening for a wide range of disorders from a single blood sample. Prenatal screening uses maternal serum markers and
Galactosemia
Galactosemia is a rare genetic metabolic disorder that affects the body's ability to process galactose, a sugar found in milk. There are three main types that result from mutations inhibiting different enzymes in the Leloir pathway involved in galactose metabolism. Type 1 is the most common and severe form, causing galactose and galactitol to accumulate and potentially lead to issues like cataracts, liver damage, and intellectual disabilities if not treated early. Treatment involves removing all lactose and galactose from the diet through lactose-free formulas and foods. While there is no cure, following a strict lifelong galactose-free diet can help manage symptoms.
GLCOGEN STORAGE DISORDERS
GSD are inherited disorders of glycogen metabolism caused by defects in glycogen degradation, glycolysis or glycogen synthesis. They can affect the liver, muscle or be generalized. GSD I is the most severe liver GSD affecting glycogen breakdown and gluconeogenesis. It presents in infancy with hypoglycemia, hepatomegaly and growth retardation. Treatment involves preventing hypoglycemia through frequent feeds and nocturnal gastric feeding. GSD III is caused by debranching enzyme deficiency and can present with liver or muscle involvement. Symptoms are similar to GSD I in childhood but improve with age, while myopathy often appears later in life.
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Fructose is metabolized primarily in the liver and small intestine. In the liver, fructose is converted to fructose-1-phosphate by fructokinase using ATP as energy. Fructose-1-phosphate is then cleaved by aldolase B into glyceraldehyde and dihydroxyacetone phosphate, which both enter glycolysis to generate energy. This pathway allows fructose to be rapidly metabolized and generates intermediates for glycolysis, though it requires two ATP per fructose molecule. Disorders of this pathway can cause hypoglycemia or liver failure if not treated by avoiding dietary fructose and sucrose.
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GLACTOSE METABOLISM
Galactosemia is a condition where the body cannot break down the sugar galactose found in milk. Symptoms include jaundice, vomiting, poor weight gain, irritability, and seizures. The treatment is removing all foods containing galactose from the diet through avoiding milk and milk products. There is no cure, but following a strict lactose-free diet can control the condition.
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This document discusses six types of glycogen storage disorders caused by deficiencies in enzymes involved in glycogen metabolism. The six types are Von Gierke's disease, Pompe's disease, limit dextrinosis, amylopectinosis, McArdle's disease, and Her's disease. Each type is characterized by the deficient enzyme, inheritance pattern, glycogen structure, affected tissues, clinical features, and prognosis. The types vary in their symptoms and severity, from fatal in early infancy to survival into adulthood.
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This ppt explains about galactosemia in children and its nutritional management
Galactosemia
Galactosemia is a rare genetic disorder caused by a deficiency of the enzyme galactose-1-phosphate uridylyl transferase (GALT). This enzyme is needed to break down the sugar galactose. Without it, galactose builds up and causes serious health issues. The disorder is inherited in an autosomal recessive pattern and affects how the body processes lactose from milk. Symptoms in infants can include vomiting, jaundice, and failure to thrive if not treated early through a strict lactose-free diet. While not curable, dietary management throughout life can prevent complications and allow those with galactosemia to live healthy lives. The disorder is diagnosed through newborn screening to detect
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Galactosemia ppt
Galactosemia is a condition where the body cannot break down the sugar galactose, which is found in milk. Symptoms include jaundice, vomiting, poor weight gain, and irritability. The treatment is removing all lactose and milk products from the diet, and using lactose-free formulas for infants. Galactosemia is inherited in an autosomal recessive pattern and must be managed through a lifelong lactose-free diet.
Galactosemia by Farshid Mokhberi
Galactosemia is a rare genetic disorder that affects the body's ability to properly metabolize the sugar galactose. It is caused by a deficiency in one of the three enzymes (GALT, GALK1, GALE) required to break down galactose through the Leloir pathway. Left untreated, galactosemia can cause intellectual disability, liver and kidney damage, cataracts, and other issues. It is typically detected through newborn screening and treatment involves eliminating galactose and lactose from the diet through life.
Galactosemia
Galactosemia is a genetic disorder caused by a deficiency of enzymes involved in galactose metabolism, leading to an accumulation of galactose and its metabolites in the body. There are three main types caused by deficiencies in galactose-1-phosphate uridylyltransferase (GALT), galactokinase (GALK), or galactose-4-epimerase (GALE). Symptoms include jaundice, poor feeding, vomiting, and long term issues such as speech delays, intellectual disability, and ovarian dysfunction. Treatment requires strict lifelong avoidance of galactose in the diet through exclusion of milk and milk products, along with calcium and soy or hydrolyzed protein formula supplementation.
Galactosemia
Galactosemia is caused by a deficiency of the enzyme galactose-1-phosphate uridyltransferase, which is an inborn error of metabolism. This causes galactose-1-phosphate to accumulate in the liver, inhibiting other enzymes and causing hypoglycemia. Clinical features include liver enlargement, jaundice, cataracts, mental retardation, and accumulation of galactose in the urine. Treatment involves removing lactose from the diet to prevent symptoms; special diets may be stopped after 4 years when another enzyme becomes active.
Inborn errors of carbohydrate metabolism
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This document discusses inborn errors of metabolism (IEM), including definitions, classifications, symptoms, pathophysiology, treatment approaches, and the importance of prenatal and newborn screening. Some key points include:
- IEM are rare genetic disorders caused by defects in metabolic pathways. They are classified into amino acid, carbohydrate, lipid, protein, and pigment metabolism disorders.
- Early detection of IEM is important to prevent permanent mental retardation and other serious consequences through timely intervention. Newborn screening aims to recognize disorders in the first week of life.
- Tandem mass spectrometry allows screening for a wide range of disorders from a single blood sample. Prenatal screening uses maternal serum markers and
Galactosemia
Galactosemia is a rare genetic metabolic disorder that affects the body's ability to process galactose, a sugar found in milk. There are three main types that result from mutations inhibiting different enzymes in the Leloir pathway involved in galactose metabolism. Type 1 is the most common and severe form, causing galactose and galactitol to accumulate and potentially lead to issues like cataracts, liver damage, and intellectual disabilities if not treated early. Treatment involves removing all lactose and galactose from the diet through lactose-free formulas and foods. While there is no cure, following a strict lifelong galactose-free diet can help manage symptoms.
GLCOGEN STORAGE DISORDERS
GSD are inherited disorders of glycogen metabolism caused by defects in glycogen degradation, glycolysis or glycogen synthesis. They can affect the liver, muscle or be generalized. GSD I is the most severe liver GSD affecting glycogen breakdown and gluconeogenesis. It presents in infancy with hypoglycemia, hepatomegaly and growth retardation. Treatment involves preventing hypoglycemia through frequent feeds and nocturnal gastric feeding. GSD III is caused by debranching enzyme deficiency and can present with liver or muscle involvement. Symptoms are similar to GSD I in childhood but improve with age, while myopathy often appears later in life.
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FRUCTOSE METABOLISM
Fructose is metabolized primarily in the liver and small intestine. In the liver, fructose is converted to fructose-1-phosphate by fructokinase using ATP as energy. Fructose-1-phosphate is then cleaved by aldolase B into glyceraldehyde and dihydroxyacetone phosphate, which both enter glycolysis to generate energy. This pathway allows fructose to be rapidly metabolized and generates intermediates for glycolysis, though it requires two ATP per fructose molecule. Disorders of this pathway can cause hypoglycemia or liver failure if not treated by avoiding dietary fructose and sucrose.
G6pd
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GLACTOSE METABOLISM
Galactosemia is a condition where the body cannot break down the sugar galactose found in milk. Symptoms include jaundice, vomiting, poor weight gain, irritability, and seizures. The treatment is removing all foods containing galactose from the diet through avoiding milk and milk products. There is no cure, but following a strict lactose-free diet can control the condition.
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This document discusses six types of glycogen storage disorders caused by deficiencies in enzymes involved in glycogen metabolism. The six types are Von Gierke's disease, Pompe's disease, limit dextrinosis, amylopectinosis, McArdle's disease, and Her's disease. Each type is characterized by the deficient enzyme, inheritance pattern, glycogen structure, affected tissues, clinical features, and prognosis. The types vary in their symptoms and severity, from fatal in early infancy to survival into adulthood.
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This ppt explains about galactosemia in children and its nutritional management
Galactosemia
Galactosemia is a rare genetic disorder caused by a deficiency of the enzyme galactose-1-phosphate uridylyl transferase (GALT). This enzyme is needed to break down the sugar galactose. Without it, galactose builds up and causes serious health issues. The disorder is inherited in an autosomal recessive pattern and affects how the body processes lactose from milk. Symptoms in infants can include vomiting, jaundice, and failure to thrive if not treated early through a strict lactose-free diet. While not curable, dietary management throughout life can prevent complications and allow those with galactosemia to live healthy lives. The disorder is diagnosed through newborn screening to detect
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This document discusses galactosemia, a rare genetic disorder that affects the body's ability to process galactose. Galactose is produced when lactose is broken down in the body. Normally it is converted to glucose for energy, but in galactosemia there is a deficiency in the enzyme galactose-1-phosphate uridyltransferase, preventing this process. As a result, galactose builds up in tissues and can cause issues like jaundice, cataracts, intellectual disability and liver/kidney problems. The disorder is treated by removing galactose and lactose from the diet. There are three types of galactosemia based on the specific enzyme deficiency.
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Galactosemia is a rare genetic metabolic disorder caused by a defect in galactose metabolism. There are three main types resulting from deficiencies in different enzymes involved in galactose breakdown. Symptoms include failure to thrive, liver and neurological damage, and cataracts. It is diagnosed through newborn screening and confirmed by testing for low enzyme levels. Treatment requires a lifelong galactose-restricted diet to prevent complications. Recent clinical trials are investigating new drug therapies like AT-007 to manage galactosemia.
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Galactosemia is a rare genetic disorder that affects the body's ability to break down and metabolize the sugar galactose. Individuals with galactosemia lack the enzyme needed to break down galactose. If not treated promptly, galactosemia can cause life-threatening complications. The only treatment is eliminating lactose and galactose from the diet. Lactose intolerance is the inability to digest lactose due to a lack of the enzyme lactase. Symptoms include abdominal pain and bloating. It can be managed by limiting dietary lactose and maintaining adequate nutrient intake through other foods and supplements.
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The document discusses fructose and galactose metabolism, including how fructose must be phosphorylated by fructokinase before entering metabolic pathways. It also describes disorders that can occur due to deficiencies in enzymes involved in fructose or galactose metabolism, such as hereditary fructose intolerance. Additionally, the roles of sorbitol and galactose in metabolism are covered, as well as disorders related to the sorbitol pathway and galactose metabolism.
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Medical technology encompasses healthcare products that diagnose, monitor, or treat diseases. Medical technologists perform complex scientific tests on blood and body fluids to analyze results. Carbohydrate metabolism provides energy for the body and is tested through various methods by medical technologists, including tests for glycogen storage diseases, galactosemia, hypoglycemia, diabetic ketoacidosis, and diabetic hyperosmolar syndrome. These conditions are diagnosed through blood and other tests to determine levels of sugars, electrolytes, ketones, and other substances affected by carbohydrate metabolism. Treatment depends on rehydration and controlling blood glucose and ketone levels.
_Intro.Of-Carbohydrates-FOODS
Glucose is a crystalline solid that dissolves in water and is the primary sugar in blood. Blood glucose levels fluctuate due to diseases, hormones, diet, and activity, with hyperglycemia indicating high levels and hypoglycemia low levels below 50mg/100mg. Fructose can substitute for glucose in diabetics as it is sweeter but requires less to sweeten food, and the liver converts it to glucose like galactose from milk, which is less sweet than glucose and part of complex molecules. Galactosemia is a genetic disease where the liver cannot convert galactose to glucose due to a missing enzyme.
CHEMIS.pptx
Carbohydrates are effective energy sources and building materials. They contain carbon, hydrogen, and oxygen and can be broken down to release energy. Cellulose forms strong fibers that provide structure to plants. Smaller carbohydrates like mono- and disaccharides are water soluble and can easily move between cells. Glucose is the most important monosaccharide, serving as the body's primary energy source. Galactose and fructose are also common monosaccharides that differ slightly in their structures from glucose.
Class 9 galactose metabolism
Dr. Dhiraj J. Trivedi Biochemistry lectures for UG medical students,
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Galactosemia
- 1. Galactosemia ———— Prepared By———— Dekan wrya University of sulaimany collage of pharmacy (2022-2023)
- 2. Contents introduction galactosemia Type of galactosemia Diagnosis of galactosemia
- 3. What is Galactose ? Galactose is a simple sugar, which belongs to simple carbohydrate . Galactose is a monosaccharide and has the same chemical formula as glucose(C6H12O6). Galactose different from glucose only in the position of one hydroxyl group.this different give galactose different chemical and biochemical properities to glucose. Name origin: From the Greek gala = milk, and - ose, which denotes sugar.
- 4. Add your title Is Galactose an essential nutrient? Galactose Functions in the Human Body -Galactose is not an essential nutrient -Galactose can be synthesized in the human body from glucose. •In the human body, most of the ingested galactose is converted to glucose, which can provide energy. •Galactose can bind to glucose to make lactose (in breast milk), to lipids to make glycolipids (for example, molecules that constitute blood groups A, B and AB), or to proteins to make glycoproteins (for example, in cell membranes).
- 5. 1 6 4 3 2 Major source source of galactose is lactose from milk and yogurt cheese Butter Cottage cheese cream Certain medications may contain galactose as a filler. 5 Source of Galactose
- 6. 6
- 7. Galactosemia Galactosemia means “galactose in the blood” This inherited disorder prevents your body from breaking down the sugar galactose Galactosemia can be a problem for newborns because galactose is present in both breast milk and most baby formulas. An enzyme ( galactose reductase ) that is not supposed to be involved with galactose converts it to galactitol, an alcohol derivative that is toxic to the body, it can cause serious damage
- 8. 8
- 9. 9 Who does galactosemia affect? Galactosemia is a genetic disorder. It can affect anyone who inherits the mutated genes (one from each parent). If both of your parents are carriers of the mutated gene. you have a 25% chance of inheriting galactosemia. This condition happens around the world.
- 10. 10 What are the signs and symptoms of galactosemia? Loss of appetite. Lethargy. Vomiting. Diarrhea. Severe weight loss. Weakness. Failure to thrive. Jaundice. Enlarged liver. Abdominal swelling with fluid (ascites). Swelling around the brain (edema).
- 11. 11
- 12. 12 Duarte galactosemia Duarte galactosemia happens due to mutations in the GALT gene the same gene that causes classic galactosemia. It’s simply a less severe mutation. People with Duarte galactosemia may have some digestive difficulties from foods containing galactose, but they don’t have the same medical complications. They don’t necessarily have to avoid galactose in their diet.
- 13. 13 How is galactosemia diagnosed? it is standard procedure to screen newborn babies for a list of disorders including classic galactosemia. The screening is done by pricking your baby’s heel and drawing a little blood, usually about 24 hours after they are born. Child who has galactosemia, the blood test will show reduced GALT enzyme activity in their blood. Your healthcare team will follow up these results with genetic testing to identify the type of galactosemia your child has.
- 14. 14 How do you treat galactosemia? The only known way to treat galactosemia is to eliminate galactose from your diet. Galactose is a component of lactose, so this usually means avoiding dairy products. Newborns can receive a soy-based or elemental formula. Children and adults may need to supplement their calcium and vitamin D intake to make up for the lack of dairy products in their diet. Treatment
- 15. 15 Some children may require extra support with learning and development as they grow up. This might include: Speech therapy. Occupational therapy. Behavioral therapy. Targeted learning plans. Teenagers may require hormone therapy in order to induce puberty and menstruation Treatment
- 16. END ———— Thank you for listening ————