Galactosemia is a genetic disorder that affects how the body processes galactose, a sugar found in milk and dairy products. People with galactosemia are unable to properly break down galactose, leading to buildup of toxic byproducts in the body. This condition requires strict avoidance of foods containing galactose to prevent serious complications.

Definition Galactosemia is a condition in which the body is unable to use (metabolize ) the simple sugar galactose. Alternative Names Galactose-1-phosphate uridyl transferase deficiency; Galactokinase deficiency; Galactose-6-phosphate epimerase deficiency Causes, incidence, and risk factors Galactosemia is an inherited disorder. This means it is passed down through families. It occurs in approximately 1 out of every 60,000 births among Caucasians. The rate is different for other groups. There are three forms of the disease: Galactose-1 phosphate uridyl transferase deficiency (classic galactosemia, the most common and most severe form) Deficiency of galactose kinase Deficiency of galactose-6-phosphate epimerase People with galactosemia are unable to fully break down the simple sugar galactose. Galactose makes up half of lactose, the sugar found in milk. The other sugar is glucose. If an infant with galactosemia is given milk, substances made from galactose build up in the infant's system. These substances damage the liver, brain, kidneys, and eyes. Persons with galactosemia cannot tolerate any form of milk (human or animal). They must be careful about eating other foods containing galactose. Symptoms Infants with galactosemia can develop symptoms in the first few days of life if they eat formula or breast milk that contains lactose. The symptoms may be due to a serious blood infection with the bacteria E. coli . Convulsions Irritability Lethargy Poor feeding (baby refuses to eat formula containing milk) Poor weight gain Yellow skin and whites of the eyes (jaundice ) Vomiting Signs and tests Signs include: Amino acids in the urine and/or blood plasma (aminoaciduria ) Enlarged liver (hepatomegaly ) Fluid in the abdomen (ascites ) Low blood sugar (hypoglycemia ) Newborn screening in many states will test for this condition. Tests include: Blood culture for bacteria infection (E. coli sepsis ) Enzyme activity in the red blood cells Ketones in the urine Prenatal diagnosis by directly measuring the enzyme galactose-1-phosphate uridyl transferase "Reducing substances" in the infant's urine, and normal or low blood sugar while the infant is being fed breast milk or a formula containing lactose Treatment People with this condition must avoid all milk, milk-containing products (including dry milk), and other foods that contain galactose for life. It is essential to read product labels and be an informed consumer. Infants can be fed with: Soy formula Meat-based formula or Nutramigen (a protein hydrolysate formula) Another lactose-free formula Calcium supplements are recommended. Support Groups Parents of Galactosemic Children, Inc. www.galactosemia.org Expectations (prognosis) People who get an early diagnosis and strictly avoid milk products can live a relatively normal life. However, mild intellectual impairment may develop, even in people who avoid galactose. Complications Cataracts Cirrhosis of the liver Death (if there is galactose in the diet) Delayed speech development Irregular menstrual periods, reduced function of ovaries leading to ovarian failure Mental retardation Severe infection with bacteria (E. coli sepsis ) Tremors and uncontrollable motor functions Calling your health care provider Call your health care provider if: Your infant has a combination of galactosemia symptoms You have a family history of galactosemia and are considering having children Prevention It is helpful to know your family history. If you have a family history of galactosemia and want to have children, genetic counseling will help you make decisions about pregnancy and prenatal testing. Once the diagnosis of galactosemia is made, genetic counseling is recommended for other members of the family. Many states screen all newborns for galactosemia. If parents learn that the test indicates possible galactosemia, they should promptly stop giving their infant milk products and ask their health care provider about having a blood test done for galactosemia. References Berry GT, Segal S, Gitzelmann R. Disorders of Galactose Metabolism. In: Fernandes J, Saudubray JM, van den Berghe G, Walter JH, eds. Inborn Metabolic Diseases: Diagnosis and Treatment . 4th ed. New York, NY: Springer;2006:chap 7.

galactosemia type's. by: severities. 1. sever type1 classic| very sever 2. galactose epimerase deficiency| type4 galactosemia| modrat/severe 3. galactokinase deficiency (GALK)| type2 galactosemia. is a mild type of galactosemia 4. duarte galactosemia is a mild variant of classic galactosemia| type 3 galactosemia?

galactosemia (galt) severiries: type1| (classic) galt: very sever/ most sever type, causes: intellectual disabilities. Affected children are also at increased risk of delayed development, clouding of the lens of the eye (cataract), speech difficulties, and intellectual disability. severely lactose restriction diet (severe “no galactose” diet) classic galactosemic’s are treated with a lactose-restricted diet. type3| galactose epimerase deficiency (GALE) range’s from: mild/to:sever. Galactose epimerase deficiency. A very rare, moderate to severe form of galactosemia characterized by moderate to severe signs of impaired galactose metabolism. causes: intellectual disabilities. A very rare, moderate to severe form of galactosemia characterized by moderate to severe signs of impaired galactose metabolism. on a diet containing galactose/lactose typically present with symptoms reminiscent of classic galactosemia. modrat diet (on a: “ low-galactose” diet: restriction of lactose/galactose from the diet) type2 galactosemia| duarte galactosemia| galactokinase (galk) is: mild. neurodevelopmental outcomes of children with Duarte galactosemia. We are encouraged that no occurrences of intellectual disability, cerebral palsy, autism spectrum disorders, hearing loss, or vision impairment were identified among these children with Duarte galactosemia. note: Classic galactosemia is a rare, serious, lifethreatening disorder. Duarte galactosemia, while more common, is far less severe. Duarte galactosemia has not been well studied. Many individuals with Duarte galactosemia never develop any symptoms due to this condition. neurodevelopmental outcomes of children with Duarte galactosemia. We are encouraged that no occurrences of intellectual disability, cerebral palsy, autism spectrum disorders, hearing loss, or vision impairment were identified among these children with Duarte galactosemia. common/rare type1 (classic galactosemia) most rare type2 (durate galactosemia) common type3 (epimerase galactosemia) Generalized epimerase deficiency galactosemia is very rare; however, epimerase deficiency galactosemia detected by newborn screening may be as frequent as about 1:6,700 among African American infants and about 1:70,000 among American infants of European ancestry Classic galactosemia is a rare, serious, life-threatening disorder. Duarte galactosemia, while more common, is far less severe. Duarte galactosemia

people with galactosemia usually have no problems digesting lactose or absorbing galactose. the problems occur after galactose has entered the blood stream. people who are lactose intolerant must avoid large amounts of lactose in foods but can usually still digest and metabolize galactose. really? lie! truth. shouldn't it be: people with galactosemia must avoid large amounts of lactose/galactose in foods. people who are lactose intolerant have no problems digesting lactose or absorbing galactose. the problems occur after galactose has entered the blood stream?

what's wors out of all galactosemia type's? classic is very sever. but. Metabolically, type IV galactosemia is likely to result in a buildup of β-d-galactose. In type I and type III galactosemia, the buildup of galactose 1-phosphate has been proposed to be responsible for many of the manifestations of these diseases. Nov 21, 2018

By school age, children with galactosemia usually know a good deal about their own diets. NOT ALLOWED: All forms of milk, cheese, yogurt, cottage cheese, cream cheese, ice cream, sherbert, pudding, creamed soups and sauces, Milk Chocolate

GALACTOSEMIA. Galactosemia. Información en español Categories: Congenital and Genetic Diseases; Newborn Screening Subtypes: Classic galactosemia; Duarte Galactosemia; Galactokinase deficiency; Galactose epimerase deficiency.

Galactose epimerase deficiency. Other Names: UDP-Galactose-4-epimerase deficiency; GALE deficiency; Galactosemia 3; Epimerase deficiency galactosemia; Galactosemia type 3; GALE-D; Uridine diphosphate galactose-4-epimerase deficiency. The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 79238 Definition A very rare, moderate to severe form of galactosemia characterized by moderate to severe signs of impaired galactose metabolism. Epidemiology Overall prevalence is not known but the disorder is thought to be very rare. Annual incidence is not known. Clinical description The disorder represents a continuum from peripheral to generalized states with corresponding disease severity. When ingesting breast milk or lactose-containing formula, patients may develop hypotonia, poor feeding, vomiting, weight loss, jaundice, hepatomegaly, splenomegaly, liver disorders, aminoaciduria, impaired growth, cataracts and cognitive deficiency. In severe cases, the disease can be life-threatening. Etiology Galactose epimerase deficiency is caused by mutations in the GALE gene (1p36) encoding the UDP-galactose 4-epimerase enzyme. Genetic counseling Galactose epimerase deficiency is inherited in an autosomal recessive manner. Prognosis Occurrence of these symptoms can be resolved or prevented by implementing a galactose-restricted diet. Visit the Orphanet disease page for more resources. This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom. Making a diagnosis for a genetic or rare disease can often be challenging. Healthcare professionals typically look at a person’s medical history, symptoms, physical exam, and laboratory test results in order to make a diagnosis. The following resources provide information relating to diagnosis and testing for this condition. If you have questions about getting a diagnosis, you should contact a healthcare professional. Newborn Screening An ACTion (ACT) sheet is available for this condition that describes the short-term actions a health professional should follow when an infant has a positive newborn screening result. ACT sheets were developed by experts in collaboration with the American College of Medical Genetics. An Algorithm flowchart is available for this condition for determining the final diagnosis in an infant with a positive newborn screening result. Algorithms are developed by experts in collaboration with the American College of Medical Genetics. Baby's First Test is the nation's newborn screening education center for families and providers. This site provides information and resources about screening at the local, state, and national levels and serves as the Clearinghouse for newborn screening information. The Newborn Screening Coding and Terminology Guide has information on the standard codes used for newborn screening tests. Using these standards helps compare data across different laboratories. This resource was created by the National Library of Medicine. National Newborn Screening and Global Resource Center (NNSGRC) provides information and resources in the area of newborn screening and genetics to benefit health professionals, the public health community, consumers and government officials. Questions sent to GARD may be posted here if the information could be helpful to others.

Subjects>Science>Biology

Galactosemia

Anonymous

∙ 14y ago

Updated: 6/22/2024

Definition

Galactosemia is a condition in which the body is unable to use (metabolize) the simple sugar galactose.

Alternative Names

Galactose-1-phosphate uridyl transferase deficiency; Galactokinase deficiency; Galactose-6-phosphate epimerase deficiency

Causes, incidence, and risk factors

Galactosemia is an inherited disorder. This means it is passed down through families.

It occurs in approximately 1 out of every 60,000 births among Caucasians. The rate is different for other groups.

There are three forms of the disease:

Galactose-1 phosphate uridyl transferase deficiency (classic galactosemia, the most common and most severe form)
Deficiency of galactose kinase
Deficiency of galactose-6-phosphate epimerase

People with galactosemia are unable to fully break down the simple sugar galactose. Galactose makes up half of lactose, the sugar found in milk. The other sugar is glucose.

If an infant with galactosemia is given milk, substances made from galactose build up in the infant's system. These substances damage the liver, brain, kidneys, and eyes.

Persons with galactosemia cannot tolerate any form of milk (human or animal). They must be careful about eating other foods containing galactose.

Symptoms

Infants with galactosemia can develop symptoms in the first few days of life if they eat formula or breast milk that contains lactose. The symptoms may be due to a serious blood infection with the bacteria E. coli.

Convulsions
Irritability
Lethargy
Poor feeding (baby refuses to eat formula containing milk)
Poor weight gain
Yellow skin and whites of the eyes (jaundice)
Vomiting

Signs and tests

Signs include:

Amino acids in the urine and/or blood plasma (aminoaciduria)
Enlarged liver (hepatomegaly)
Fluid in the abdomen (ascites)
Low blood sugar (hypoglycemia)

Newborn screening in many states will test for this condition.

Tests include:

Blood culturefor bacteria infection (E. coli sepsis)
Enzyme activity in the red blood cells
Ketones in the urine
Prenatal diagnosis by directly measuring the enzyme galactose-1-phosphate uridyl transferase
"Reducing substances" in the infant's urine, and normal or low blood sugarwhile the infant is being fed breast milk or a formula containing lactose

Treatment

People with this condition must avoid all milk, milk-containing products (including dry milk), and other foods that contain galactose for life. It is essential to read product labels and be an informed consumer.

Infants can be fed with:

Soy formula
Meat-based formula or Nutramigen (a protein hydrolysate formula)
Another lactose-free formula

Calcium supplements are recommended.

Support Groups

Parents of Galactosemic Children, Inc.

www.galactosemia.org

Expectations (prognosis)

People who get an early diagnosis and strictly avoid milk products can live a relatively normal life. However, mild intellectual impairment may develop, even in people who avoid galactose.

Complications

Cataracts
Cirrhosis of the liver
Death (if there is galactose in the diet)
Delayed speech development
Irregular menstrual periods, reduced function of ovaries leading to ovarian failure
Mental retardation
Severe infection with bacteria (E. coli sepsis)
Tremors and uncontrollable motor functions

Calling your health care provider

Call your health care provider if:

Your infant has a combination of galactosemia symptoms
You have a family history of galactosemia and are considering having children

Prevention

It is helpful to know your family history. If you have a family history of galactosemia and want to have children, genetic counseling will help you make decisions about pregnancy and prenatal testing. Once the diagnosis of galactosemia is made, genetic counseling is recommended for other members of the family.

Many states screen all newborns for galactosemia. If parents learn that the test indicates possible galactosemia, they should promptly stop giving their infant milk products and ask their health care provider about having a blood test done for galactosemia.

References

Berry GT, Segal S, Gitzelmann R. Disorders of Galactose Metabolism. In: Fernandes J, Saudubray JM, van den Berghe G, Walter JH, eds. Inborn Metabolic Diseases: Diagnosis and Treatment. 4th ed. New York, NY: Springer;2006:chap 7.

Reviewed By

Review Date: 04/15/2009

Chad Haldeman-Englert, MD, Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA. Review provided by VeriMed Healthcare Network (3/13/2006). Also reviewed by David Zieve, MD, MHA, Medical Director, A.D.A.M., Inc.

Wiki User

∙ 13y ago

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The lack of which enzyme causes galactosemia?

The lack of the enzyme galactose-1-phosphate uridyltransferase (GALT) causes galactosemia. This enzyme is responsible for the breakdown of galactose in the body, and its deficiency leads to the accumulation of galactose and its toxic byproducts.

Is Lactose intolerance dominant or recessive trait?

Lactose intolerance is typically considered a recessive trait. It is caused by a reduced ability to produce the enzyme lactase, which digest lactose. If an individual inherits two copies of the gene associated with lactose intolerance (one from each parent), they are likely to be lactose intolerant.

What disorder and or disability is worse Mild Moderate Severe or Profound?

Classic galactosemia: Other Names: Galactose-1-phosphate uridyltransferase deficiency; Galactosemia type 1; GALT deficiency; Galactose-1-phosphate uridyltranferase deficiency; Galactose-1-phosphate uridyl transferase deficiency; Galactose-1-phosphate uridyl-transferase deficiency disease; Galactosemia, classic. The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 79239. DefinitionA life-threatening metabolic disease with onset in the neonatal period. Infants usually develop feeding difficulties, lethargy, and severe liver disease. Epidemiology: Global prevalence is unknown but estimated annual incidence has been reported to be between 1/40,000 and 1/60,000 in Western countries. The disorder appears to be more common in the Caucasian population than in other ethnic groups but figures in other populations may be underestimated. Males and females are equally affected. appropriate treatment: galactose restriction (no: lactose/ or: galactose) at all. Etiology: Classic galactosemia is caused by mutations in the GALT (9p13) gene encoding the galactose-1-phosphate uridyltransferase enzyme. Mutations that severely impair enzyme activity result in the classic galactosemia phenotype. The so-called variants are mutations associated with higher residual enzyme activity resulting in milder or no features of galactosemia such as the duarte variant (GALT gene mutation). diagnostic methods: In many countries, infants are routinely screened for galactosemia at birth. when neonatal screening is not performed, diagnosis is based on the clinical picture. diagnosis can be confirmed by assay of the relevant metabolites, enzyme activity and GALT gene mutational analysis. differential diagnosis: differential diagnoses include galactose epimerase deficiency and other diseases causing acute liver disease in the neonate. Management and treatmentTreatment is based primarily on galactose restriction in the diet. Infants should be fed with soy formula or other lactose-free formula. Patients are advised to follow a lifelong diet. To prevent a diminished bone mass, calcium, vitamin D and vitamin K supplements are recommended if dietary intake does not meet the recommended daily allowance. Monitoring of cognitive and motor development, gonadal function and bone mass is mandatory. Eye examinations are recommended in case of neonatal cataracts or in case of poor dietary compliance. Despite dietary treatment long-term complications occur. Prognosis: Prognosis is dependent on age of diagnosis, disease severity and compliance with dietary restrictions, which affects the onset and course of secondary complications.

Where does the chromosome of galactosemia is located on?

Some scientists say: -The insulin dependent DDM1, Diabtese mellitus is on chromosome 6 -Type 1 Diabetes was found on chromosome 1q42, and possibly 11 -Type 2 Diabetes on Chromosomes 12 and/or 20

What is galactocaemia?

Galactosemia is a rare genetic disorder where the body is unable to break down galactose, a sugar found in milk. This can lead to severe health problems if not managed properly, such as liver damage and developmental issues. Treatment usually involves a strict diet that eliminates foods containing galactose.

What health condition is Galactosemia?

The health condition galactosemia occurs when the body has a deficiency in processing glucose. The condition mostly affects infants and can be life threatening if not treated.

What can be treated by placing the affected individual on a restricted diet that excludes dairy products huntington disorder down syndromefaulty-enamel trait or galactosemia?

Galactosemia... the word "lactose" in this word should have given you a thoughtless answer.

What causes galactosemia II?

Galactosemia II is caused by defects in both copies of the gene that codes for an enzyme called galactokinase (GALK). The frequency of occurrence of galactosemia II is about one in 100,000-155,000 births.

Is there reserch into gene therapy for galactosemia?

yes

Did Mel Gibson have galactosemia?

No, Mel Gibson does not have galactosemia. Galactosemia is a rare genetic disorder that affects the body's ability to process galactose, a sugar found in milk and dairy products. There is no public information or credible sources indicating that Gibson has been diagnosed with this condition.

Why does congenital galactosemia appear only into infants?

Galactosemia is a condition where infants have trouble digesting lactose to the point where it could harm their organs. People's systems get stronger as people age so older children are no longer affected by the condition.

With galactosemia what does the Los Angeles gene refer to?

the city

When was Galactosemia found?

it was found in 1908 by Von Ruess

What type Galactosemia is sever or most sever?

sever type1 classic is the most sever type,....... sever type1 (classic): galactosemia is the most sever galactosemic disorder

What causes Galactosemia?

Galactosemia is a very rare disease that is received through a recessive trait. It is hardly diagnosed but can also be very easily confused with lactose intolerance. Though the two can be very similar but they are very different. Galactosemia is when your body cannot process galactose and lactose intolerance is when your body cannot process lactose. Lactose and galactose can be found in generally the same food group, dairy. The very important difference between the two is that lactose intolerance causes the symptoms of gas, cramps and diarrhea and galactosemia causes excess fat to build up in the brain, cause mental retardation and finally death.

Like many genetic disorders galactosemia is a disruption of a metabolic pathway due to a malfunctioning?

Many genetic orders such as galactosemia is a disruption in a metabolic pathway. Galactosemia is a disruption in the process of breaking down galactose.

Are there any famous people that havehad galactosemia?

Mel gibson