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What is galactosemia?

Updated: 8/11/2023
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Wiki User

12y ago

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Galactosemia is a rare genetic metabolic disorder, in which an individual (usually an infant) lacks the enzyme GALT, which breaks down the sugar galactose in the body. Since galactoseis produced by the breakdown of lactose (in milk) into glucose, this sugar rapidly accumulates in the body, and may result in damage to the kidneys, liver, eyes, and brain.

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Wiki User

12y ago
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Anonymous

Lvl 1
3y ago
howmany type's  of galactosemia?
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Anonymous

Lvl 1
3y ago
Galactosemia Type 1 is the sever type (classic galactocemia)
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aanne1

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3y ago
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healthtohome

Lvl 4
1y ago

Galactosemia is a rare inherited metabolic disorder in which a person cannot metabolize galactose, a sugar found in milk and other dairy products. This can lead to a build-up of galactose in the blood and urine and can damage the liver, kidneys, and brain. People with galactosemia need to avoid foods that contain galactose and may need to take supplements of glucose or other sugars.

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Jacob Geiter

Lvl 5
2y ago

Galactosemia is a rare, hereditary disorder of carbohydrate metabolism that affects the body's ability to convert galactose (a sugar contained in milk, including human mother's milk) to glucose (a different type of sugar).

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MaMaMia

Lvl 5
2y ago

Too much galactose in the blood.

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Anonymous

Lvl 1
3y ago

1. classic galactosemia

2. duarte galactosemia is a mild variant of classic galactosemia

3. 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. is A very rare, moderate to severe form of galactosemia characterized by moderate to severe signs of impaired galactose metabolism. The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 79238

4. Galactokinase deficiency. Other Names: GALK deficiency; Galactosemia 2; Hereditary galactokinase deficiency; Galactokinase deficiency galactosemia; GALK-D; Galactosemia type 2. Galactokinase deficiency (GALK), a mild type of galactosemia

type# form/name:

1. classic| severe

4. galactose epimerase deficiency| modrate/severe

2. galactokinase deficiency| mild

3. duarte Galactosemia| mild/severe

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Anonymous

Lvl 1
3y ago

The variant Duarte galactosemia, a much milder form of galactosemia, also involves a mutation in the GALT gene. Whereas classic galactosemia completely prevents the normal processing of galactose, the Duarte variant only reduces enzyme activity by ~75%, but not by 100% as in classic galactosemia. Children with Duarte galactosemia usually do not have serious health effects and may or may not need treatment.

Other types of classic galactosemia, far rarer, that are not discussed here include:

Galactosemia type II, caused by results from mutations in the GALK1 gene

Galactosemia type III, caused by mutations in the GALE gene

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Anonymous

Lvl 1
3y ago

CLASSIC GALACTOSEMIA print

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

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Anonymous

Lvl 1
3y ago

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. Orpha Number: 79239

Definition. A 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. Clinical description: When ingesting breast milk or lactose-containing formula, infants develop feeding problems, failure to thrive, and signs of liver damage (jaundice, bleeding tendency, hypoglycemia). In the absence of appropriate treatment (galactose restriction), sepsis (E-coli) and neonatal death may occur. Despite adequate treatment, long-term complications appear including cognitive impairments, motor deficits, 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. Antenatal diagnosis testing is usually performed by sampling. In at-risk relatives, testing is also possible to search for the mutation when already identified in a family. Genetic counseling Galactosemia follows an autosomal recessive pattern of inheritance. Management and treatment. Treatment 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.

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Anonymous

Lvl 1
3y ago

a "variant" of classic galactosemia called Duarte variant galactosemia, in which a person has mutations in the GALT gene but has only partial deficiency of the enzyme. Infants with this form may have jaundice, which resolves when switched to a low-galactose formula. Some studies have found that people with this form are at increased risk for mild neurodevelopmental problems, but other studies have found there is no increased risk. The risk may depend on the extent of the deficiency.

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Anonymous

Lvl 1
3y ago

Galactose epimerase deficiency (type 3) - caused by mutations in the GALE gene and characterized by a deficiency of the enzyme UDP-galactose-4-epimerase. Symptoms and severity of this type depend on whether the deficiency is confined to certain types of blood cells or is present in all tissues. Some people with this type have no signs or symptoms, while others have symptoms similar to those with classic galactosemia. Like in classic galactosemia, many symptoms can be prevented or improved with treatment.

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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?

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.


What is the probability that the next two children will both be affected with galactosemia?

A) 1/16


Is galactosemia a frameshift mutation insertion mutation or substitution mutation?

There are 5 different disorders that result in galactosemia differentiated into three main types. The worst is the Classic form and there are over 180 different mutations associated with this form. The GALT gene is modified by substitution is these examples. The most common one in Caucasian is a single substitution of arginine for glutamine at position 188 on the protein. Another mutation that occurs almost exclusively in individuals of African decent is a single substitution of leucine for serine at position 135.


What is the cause of galactosemia I?

Caused by defects in both copies of the gene that codes for an enzyme called galactose-1-phosphate uridyl transferase (GALT). There are 30 known different mutations in this gene that cause GALT to malfunction.

Related questions

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


The lack of which enzyme causes galactosemia?

Galactosemia is a genetic disorder which is caused by a lack of the GALT enzyme. This is essential in breaking down the milk sugar galactose.


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.


When was Galactosemia found?

it was found in 1908 by Von Ruess


With galactosemia what does the Los Angeles gene refer to?

the city


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


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.


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.


Are there any famous people that havehad galactosemia?

Mel gibson