Re: Hereditary Fructose Intolerance

[Robert <http://dummy.us.eu.org/robert>]

Fruc that.

Or, is that fraq that?

 > From: "Bhavani" <http://www.myself.com/~Bhavani>
 > Date: Wed, 27 Feb 2013 19:32:19 -0500
 >
 > carrier status https://www.23andme.com/you/health/carrier/ 
 > 
 > Next
 > Hypertrophic Cardiomyo... 
 > https://www.23andme.com/you/journal/hypertrophic_cardiomyopathy/overview/ 
 > 
 >     Hereditary Fructose Intolerance
 >     -------------------------------
 > 
 > Share 
 > https://www.2&height=430&modal=true
 > &style=shadow&absolute=true&phenotype_id=fructose_intolerance Like 
 > https://www.23andme.com/you/journal/fructose_intolerance/overview/#  ·  17 
 > others like this 
 > 
 > Your Data https://www.23andme.com/you/journal/fructose_intolerance/overview/ 
 > How It Works 
 > https://www.23andme.com/you/journal/fructose_intolerance/howitworks/ Resources 
 > https://www.23andme.com/you/journal/fructose_intolerance/resources/ Technical 
 > Report https://www.23andme.com/you/journal/fructose_intolerance/techreport/ 
 > Community (2) 
 > https://www.23andme.com/you/journal/fructose_intolerance/community/ 
 > 
 >     Hereditary Fructose Intolerance
 > 
 > Printable Version https://www.23andme.com/you/journal/fructose_intolerance/pdf/ 
 > 
 > Hereditary fructose intolerance (HFI) is a genetic condition in which affected 
 > individuals are not able to break down fructose. Fructose is a sugar found in 
 > fruit, but it is also in many of the sugars we use to sweeten our foods, such 
 > as white cane sugar and high-fructose corn syrup. HFI is caused by mutations in 
 > the aldolase B (ALDOB) gene 
 > https://www.23andme.com/you/journal/fructose_intolerance/overview/#Gene  and is 
 > inherited in an autosomal recessive manner, which means that a person must 
 > inherit a mutated copy of the gene from each parent to develop the disease. 
 > Approximately one in 20,000 individuals of European ancestry has HFI, and about 
 > 1% of people with European ancestry is a carrier for the condition. Although 
 > HFI can be fatal if untreated, with early detection and a fructose-free diet 
 > individuals with HFI may lead a normal and healthy life.
 > The following results are based on  
 > https://www.23andme.com/you/journal/legend2/?width=420&height=270 Established 
 > Research https://www.23andme.com/you/faqwin/establishedresearch/  for 4 
 > reported markers.
 > Learn more about the biology of Hereditary Fructose Intolerance... 
 > https://www.23andme.com/you/journal/fructose_intolerance/howitworks/ 
 > 
 > 1 of 3. Fructose is a type of sugar found in fruit and also table sugar.
 > 
 >     Your Genetic Data
 > 
 > WhoWhat It Means
 > Has two mutations in the ALDOB gene 
 > https://www.23andme.com/you/journal/fructose_intolerance/overview/#Gene  linked 
 > to HFI. A person with two of these mutations typically has HFI.
 > Bhavani Has one mutation in the ALDOB gene 
 > https://www.23andme.com/you/journal/fructose_intolerance/overview/#Gene  linked 
 > to HFI. A person with one of these mutations typically does not have HFI but 
 > can pass the mutation to offspring. May have other mutations in ALDOB (not 
 > reported here).
 > Does not have any of the ALDOB mutations reported by 23andMe. May still have 
 > other mutations in ALDOB.
 > Learn more about your genotype... 
 > https://www.23andme.com/you/journal/fructose_intolerance/techreport/ 
 > » Share your health results 
 > https://www.2&height=430&modal=true
 > &style=shadow&absolute=true&phenotype_id=fructose_intolerance 
 > 
 > Genes vs. Environment
 > HFI is inherited in a recessive manner, meaning that only a child who receives 
 > two mutated copies of the ALDOB gene 
 > https://www.23andme.com/you/journal/fructose_intolerance/overview/#Gene  (one 
 > from each parent) will get the disease. Over 40 mutations of the ALDOB gene 
 > have been documented, and 23andMe reports data for the four most common 
 > disease-causing mutations in individuals of European ancestry. These mutations 
 > together account for approximately 75% of the HFI-causing mutations in this 
 > population. Thus, you may still have a rare ALDOB mutation or be affected by 
 > HFI even if your data indicate that you are a non-carrier. If you are concerned 
 > about HFI, please consult a health care professional.
 > 
 > A genetic counselor can help you understand more about your 23andMe reports and 
 > respond to your genetic health questions. 23andMe is collaborating with 
 > InformedDNA to give you direct access to board-certified genetic counselors 
 > that have been specifically trained to guide you through your 23andMe results. 
 > Click here http://23andme.informeddna.com  to learn more about their 
 > independent genetic counseling services.
 > 
 > Hereditary Fructose Intolerance and Your Genes
 > Hereditary fructose intolerance (HFI) is caused by mutations in the aldolase B 
 > fructose-bisphosphate (ALDOB) gene and is inherited in an autosomal recessive 
 > manner, meaning that affected individuals must receive two mutated copies of 
 > the ALDOB gene (one from each parent). The ALDOB gene encodes the aldolase B 
 > enzyme, which acts in the liver and kidney cells to metabolize fructose, a type 
 > of sugar. Mutations in the ALDOB gene render aldoase B inactive and reduce the 
 > bodyâ??s ability to use sugar molecules for energy, resulting in hypoglycemia (
 > low blood sugar). Hypoglycemia, if severe and left untreated can lead to 
 > seizures, coma and death. In addition, the accumulation of partially 
 > metabolized fructose molecules becomes toxic to the cells and causes liver and 
 > kidney damage.
 > There are at least 40 known ALDOB mutations that have been linked to HFI. 
 > 23andMe reports on four of the most common mutations in individuals of European 
 > ancestry: A149P, A174D, N334K, and delta4E4. These mutations together account 
 > for approximately 75% of the HFI-causing mutations found in this population.
 > The most common is A149P which alone accounts for 65% of all HFI-causing 
 > mutations in individuals of European ancestry. Approximately one in 100 
 > individuals of British descent carries at least one copy of the mutation. The 
 > second most common mutation is A174D, which accounts for 11-14% of the 
 > HFI-causing mutations and is widespread in European populations. Approximately 
 > 5-8% of people with HFI have the N334K mutation. The last mutation on which 
 > 23andMe reports, delta4E4, is also most commonly found in individuals of 
 > European ancestry, and contributes approximately 3% of the HFI-causing 
 > mutations in this population.
 > You may still have an ALDOB mutation or be affected by HFI even if your data 
 > indicates that you are a non-carrier. If you are concerned about HFI, please 
 > consult a health professional.
 > 
 > Citations
 > 
 > Bouteldja N et al. (2010) 
 > http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Search&db=PubMed&term=20162364
 >   . â??The biochemical basis of hereditary fructose intolerance.â??  /J. 
 > Inherit. Metab. Dis./ 33(2):105-12.
 > Santer R et al. (2005) 
 > http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Search&db=PubMed&term=15880727
 >   . â??The spectrum of aldolase B (ALDOB) mutations and the prevalence of 
 > hereditary fructose intolerance in Central Europe.â??  /Hum. Mutat./ 25(6):594.
 > Coffee EM et al. (2010) 
 > http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Search&db=PubMed&term=20033295
 >   . â??Increased prevalence of mutant null alleles that cause hereditary 
 > fructose intolerance in the American population.â??  /J. Inherit. Metab. Dis./ 
 > 33(1):33-42.
 > Esposito G et al. (2002) 
 > http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Search&db=PubMed&term=12417303
 >   . â??Structural and functional analysis of aldolase B mutants related to 
 > hereditary fructose intolerance.â??  /FEBS Lett./ 531(2):152-6.
 > Ali M et al. (1998) 
 > http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Search&db=PubMed&term=9610797
 >   . â??Hereditary fructose intolerance.â??  /J. Med. Genet./ (5):3-65.
 > The genotyping services of 23andMe are performed in LabCorp's CLIA-certified 
 > laboratory. The tests have not been cleared or approved by the FDA but have 
 > been analytically validated according to CLIA standards. The information on 
 > this page is intended for research and educational purposes only, and is not 
 > for diagnostic use.
 > 
 > Bhavani
 >   
 > my-parents's-New-Hampshire-phone-number
 > Imagination is more important than knowledge.~Albert Einstein