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Doctor insights on: Galactosemia Mutation Analysis

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What is the definition or description of: thrombophilia DNA mutation analysis?

What is the definition or description of: thrombophilia DNA mutation analysis?

Test for clotting: Certain inherited blood clotting disorders are due to genetic mutations which can be identified by a blood test. Thrombophilia is the medical term for an abnormal tendency for blood clot (thrombosis). ...Read more

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Mutation (Definition)

In genetics, a mutation is a change in the nucleotide sequence of the genome of an organism, virus, or extrachromosomal genetic element. Mutations result from unrepaired damage to dna or to RNA genomes (typically caused by radiation or chemical mutagens), from errors in the process of replication, or from the insertion or deletion of segments of dna ...Read more


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Can you definitively rule out lynch syndrome in patients tested neg for msi/ihc without germline mutation analysis? If not, what additional indications are required for md to order germline analysis?

Can you definitively rule out lynch syndrome in patients tested neg for msi/ihc without germline mutation analysis? If not, what additional indications are required for md to order germline analysis?

See below: Lynch sydrome is caused by a germline mutation in a gene leading to msi. Combined testing for msi, and using ihc to look for genetic abnormalities leading to msi are the best tests to determine if you have lynch syndrome. Further genetic testing could be done in people who test positive for msi or ihc. Please see: http://www.Mayoclinic.Com/health/lynch-syndrome/ds00669/dsection=tests-and-diagnosis. ...Read more

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Are there many factors that can cause the mutation for galactosemia?

Are there many factors that can cause the mutation for galactosemia?

Inherited: Galactosemia is a autosomal recessive inherited condition which causes you to metabolise galactose and other sugars incorrectly or differently. Autosomal recessive conditions usually come from both parent's--usually as carriers but not expresing the disease.There are many factors related to gene expression and gene abnormalities, but once you have the abnormality, it is not easy to determine. ...Read more

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How many people, what age suffer from galactosemia?

How many people, what age suffer from galactosemia?

See below:: Classic galactosemia occurs in approximately 1 of 60, 000 live births. However, the reported incidence of galactosemia varies geographically from 1 in 30, 000 to 40, 000 in europe to 1 in 1 million in japan. The estimated incidence in the United States is 1 in 53, 000. It occurs in the neonatal/infancy age group. ...Read more

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What daily activity would be difficult for someone with galactosemia?

What daily activity would be difficult for someone with galactosemia?

Food selection: Galactosemia is a rare genetic defect of digestion that prevents the body from breaking down simple sugars - especially lactose - into energy units. This leads to a build up of toxins that can affect several organs and lead to permanent damage. Here's an article I reviewed that should help guide you to more information. http://ghr.nlm.nih.gov/condition=galactosemia ...Read more

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Site for people born with galactosemia?

See below: Nih website http://www.Ncbi.Nlm.Nih.Gov/pubmedhealth/pmh0001405/ galactosemia foundation http://galactosemia.Org/ good luck. ...Read more

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What sex and lifestyle changes should I make if galactosemia?

What sex and lifestyle changes should I make if galactosemia?

GALACTOSEMIA: Inherited enzyme deficiency that can cause premature ovarian failure. Lifestyle changes is avoidance of lactose from the diet to prevent hepatic, renal, cognitive deficits, etc. ...Read more

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Is it true that galactosemia can be treated by dietary modification?

Is it true that galactosemia can be treated by dietary modification?

Yes.: Patients with galactosemia, or galactose-1-phosphate uridyltransferase deficiency, are unable to metabolize a sugar called galactose. Eliminating galactose from the diet is the mainstay of treatment of this disease. ...Read more

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Any alternative treatments for galactosemia?

Any alternative treatments for galactosemia?

No!: Galactosemia cannot be cured. But, you can take steps to prevent or minimize galactosemia symptoms and complications. The treatment is the strict avoidance of all sources of galactose. The most common source is lactose, which is the milk sugar that breaks down to galactose and glucose. Avoid: milk or milk by-products, fermented soy products, legumes, organ meats, & hydrolyzed protein. ...Read more

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Should people with galactosemia drink alcohol?

Should people with galactosemia drink alcohol?

Depends: The alcohol wouldn't be a problem for most, but some mixes may have galactose sugar which would be(think milk or creamy additives). If they are vigilant about researching which drinks or mixes they should avoid, i thing an occasional drink would be fine. ...Read more

Dr. Gregory Moneta
17 doctors shared insights

Galactosemia (Definition)

Galactosemia is an inherited condition in which there is an inability to break down a type of sugar called galactose, leading to its accumulation in the body. This can cause damage to the eyes, liver, kidney, and brain resulting in the yellowing of skin, seizures, poor feeding, ...Read more