What is galactosemia?

Answer 1

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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Answer 2

Galactosemia is a rare genetic disorder where the body is unable to properly break down a sugar called galactose, which is found in dairy products and some fruits and vegetables. This can lead to a buildup of harmful substances in the body, causing symptoms such as liver damage, cataracts, and developmental delays if left untreated. Treatment involves avoiding foods that contain galactose.

Answer 3

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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Answer 4

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).

Answer 5

Too much galactose in the blood.

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Answer 6

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

Answer 7

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

Answer 8

Can you grow out of galactosemia?

Galactosemia is a lifelong condition that children will not outgrow. However, galactosemia can be easily managed by following a galactose-free diet. ... The majority of fruits, vegetables, grains, breads, fats, and sugars are safe to eat as long as they contain little or no galactose. Oct 10, 2019

Answer 9

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.

Answer 10

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.