Galactosemia

Answer 1

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.

Answer 2

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.

Answer 3

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

Answer 4

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

Answer 5

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?

Answer 6

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?

Answer 7

What are the types of galactosemia?

There are three main types of galactosemia:

Classic (type I)

Galactokinase deficiency (type II)

Galactose epimerase deficiency (type III)

May 5, 2019

Answer 8

goodness nesquik say’s: Ingredients

Ingredients: Oatmilk (water, Oat Flour), Cane Sugar, Pea Protein, Less Than 2% Of Cocoa Processed With Alkali, Coconut Oil, Tricalcium Phosphate, Gellan Gum, Salt, Guar Gum, Natural Flavor, Stevia Leaf Extract.

Details

What does Nesquik® Goodnes™ stand for?

• GoodNes™ from the Earth

• GoodNes™ for Your Body

• GoodNes™ for Everybody

but, is it safe for sevr/rare disorder’s? such as: sever type1 classic galactosemia or for anytype of: galactosemia?

Answer 9

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.

Answer 10

type 3 mild galactosemia info varroous| 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.

diagnoses| 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.

Testing Resources

The Genetic Testing Registry (GTR) provides information about the genetic tests for this condition. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics 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.

Living with a genetic or rare disease can impact the daily lives of patients and families. These resources can help families navigate various aspects of living with a rare disease.

Education Resources

The Genetics Education Materials for School Success (GEMSS) aims to assure that all children with genetic health conditions succeed in school-life. Their Web site offers general and condition-specific education resources to help teachers and parents better understand the needs of students who have genetic conditions.

Questions sent to GARD may be posted here if the information could be helpful to others.