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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 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.
Galactosemia is the name of a metabolic disorder In this disorder an enzyme is missing that is needed to?
...that is needed to break down galactose.
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.
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 galactosemia sex-linked?
No, it is a genetic metabolic disorder.
What does the medical abbreviation PKU mean?
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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.
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.
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 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.
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.
