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Health and Medical Guide to Genetics vs. Birth Defects

Metabolic Disorders

Health information topics about Metabolic Disorders:

Anatomy/Physiology

    1. Genes and Disease: Nutritional and Metabolic Disea
    National Center for Biotechnology Information
    http://www.ncbi.nlm.nih.gov/books/bv.fcgi?call=bv.View..ShowSection&rid=gnd...

Children

    1. Understanding MPS and ML: Is Your Child Having an
    National MPS Society
    http://www.mpssociety.org/images/pdfs/booklets/Anesthetic%20final.pdf

Clinical Trials

    1. ClinicalTrials.gov: Progeria
    National Institutes of Health
    http://clinicaltrials.gov/ct/gui/action/FindCondition?ui=D011371&recruiting...

    2. ClinicalTrials.gov: Metabolic Diseases
    National Institutes of Health
    http://clinicaltrials.gov/ct/gui/action/FindCondition?ui=D008659&recruiting...

    3. ClinicalTrials.gov: Mucolipidoses
    National Institutes of Health
    http://clinicaltrials.gov/ct/gui/action/FindCondition?ui=D009081&recruiting...

    4. ClinicalTrials.gov: Mucopolysaccharidoses
    National Institutes of Health
    http://clinicaltrials.gov/ct/gui/action/FindCondition?ui=D009083&recruiting...

Diagnosis/Symptoms

    1. Diagnostic Testing: Hutchinson-Gilford Progeria S
    Progeria Research Foundation, Inc.
    http://www.progeriaresearch.org/testing.shtml

Directories

    1. Organizations for Endocrine and Metabolic Disease
    National Institute of Diabetes and Digestive and Kidney Diseases
    http://www.niddk.nih.gov/health/endo/pubs/endorg/endorg.htm

    2. Laboratory Directory-GeneReviews
    Children's Health Care System, Seattle
    http://www.genetests.org/servlet/access?id=8888891&key=xW0l31Z2a4hTc&fcn=y&...

    3. Genetic and Rare Diseases Information Center
    Office of Rare Diseases
    http://rarediseases.info.nih.gov/html/resources/info_cntr.html

    4. US Clinic Directory Search
    Children's Health Care System, Seattle
    http://www.genetests.org/servlet/access?id=8888891&key=yLoqrsrCVms-M&fcn=y&...

Disease Management

    1. Management of MPS (Mucopolysaccharidosis) and ML (
    National MPS Society
    http://www.mpssociety.org/images/pdfs/booklets/Managment%20of%20MPS-ML.pdf

    2. Important Information for You and Your Doctors abo
    Progeria Research Foundation, Inc.
    http://www.progeriaresearch.org/pdf/2003AspirinFinal.pdf

Genetics

    1. Genetics Home Reference: Mitochondrial trifunction
    National Library of Medicine
    http://ghr.nlm.nih.gov/condition=mitochondrialtrifunctionalproteindeficienc...

    2. Genetics Home Reference: Propionic acidemia
    National Library of Medicine
    http://ghr.nlm.nih.gov/condition=propionicacidemia

    3. Genetics Home Reference: Galactosemia
    National Library of Medicine
    http://ghr.nlm.nih.gov/condition=galactosemia

    4. Genetics Home Reference: Long-chain 3-hydroxyacyl-
    National Library of Medicine
    http://ghr.nlm.nih.gov/condition=longchain3hydroxyacylcoenzymeadehydrogenas...

    5. Genetics Home Reference: Methylmalonic acidemia
    National Library of Medicine
    http://ghr.nlm.nih.gov/condition=methylmalonicacidemia

    6. Genetics Home Reference: Medium-chain acyl-coenzym
    National Library of Medicine
    http://ghr.nlm.nih.gov/condition=mediumchainacylcoenzymeadehydrogenasedefic...

    7. Genetics Home Reference: Maple syrup urine disease
    National Library of Medicine
    http://ghr.nlm.nih.gov/condition=maplesyrupurinedisease

    8. Genetics Home Reference: Isovaleric acidemia
    National Library of Medicine
    http://ghr.nlm.nih.gov/condition=isovalericacidemia

    9. Genetics Home Reference: Hutchinson-Gilford proger
    National Library of Medicine
    http://ghr.nlm.nih.gov/condition=hutchinsongilfordprogeriasyndrome

    10. Genetics Home Reference: Homocystinuria
    National Library of Medicine
    http://ghr.nlm.nih.gov/condition=homocystinuria

    11. Genetics Home Reference: Glucose-6-phosphate dehyd
    National Library of Medicine
    http://ghr.nlm.nih.gov/condition=glucose6phosphatedehydrogenasedeficiency

    12. Genetics Home Reference: Biotinidase deficiency
    National Library of Medicine
    http://ghr.nlm.nih.gov/condition=biotinidasedeficiency

    13. Genetics Home Reference: Alkaptonuria
    National Library of Medicine
    http://ghr.nlm.nih.gov/condition=alkaptonuria

    14. Genetics Home Reference: Trimethylaminuria
    National Library of Medicine
    http://ghr.nlm.nih.gov/condition=trimethylaminuria

    15. Genetics Home Reference: Very long-chain acyl-coen
    National Library of Medicine
    http://ghr.nlm.nih.gov/condition=verylongchainacylcoenzymeadehydrogenasedef...

    16. Researchers Identify Gene for Premature Aging Diso
    National Human Genome Research Institute
    http://www.nih.gov/news/pr/apr2003/nhgri-16.htm

    17. Genetics Home Reference: Niemann-Pick disease
    National Library of Medicine
    http://ghr.nlm.nih.gov/condition=niemannpickdisease

    18. Genetics Home Reference: Familial lipoprotein lipa
    National Library of Medicine
    http://ghr.nlm.nih.gov/condition=familiallipoproteinlipasedeficiency

    19. Genetics Home Reference: Primary hyperoxaluria
    National Library of Medicine
    http://ghr.nlm.nih.gov/condition=primaryhyperoxaluria

National Institutes of Health

    1. Lipid Storage Diseases
    National Institute of Neurological Disorders and Stroke
    http://www.ninds.nih.gov/disorders/lipid_storage_diseases/detail_lipid_stor...

Nutrition

    1. Nutritional Supplements in Hutchinson-Gilford Prog
    Progeria Research Foundation, Inc.
    http://www.progeriaresearch.org/pdf/NutritionalSupplementsFinal.pdf

Organizations

    1. Barth Syndrome Foundation

    http://www.barthsyndrome.org/home.html

    2. Save Babies Through Screening Foundation

    http://www.savebabies.org/

    3. United Mitochondrial Disease Foundation

    http://www.umdf.org/

    4. Progeria Research Foundation, Inc.

    http://www.progeriaresearch.org/

    5. Oxalosis and Hyperoxaluria Foundation

    http://www.ohf.org/

    6. National MPS Society (Mucopolysaccharidoses)
    National MPS Society
    http://www.mpssociety.org/

    7. National Institute of Diabetes and Digestive and K

    http://www.niddk.nih.gov/

Overviews

    1. Hereditary Disorders of Metabolism
    Merck & Co., Inc.
    http://www.merck.com/mmhe/sec23/ch282/ch282a.html

Prevention/Screening

    1. Newborn Screening Tests
    March of Dimes Birth Defects Foundation
    http://www.marchofdimes.com/pnhec/298_834.asp

    2. Layperson's Guide to Tandem Mass Spectrometry
    Save Babies Through Screening Foundation
    http://www.savebabies.org/NBS/msms-chace.php

Research

    1. Birth Defects and Developmental Disabilities
    National Institute of Child Health and Human Development
    http://www.nichd.nih.gov/womenshealth/birth_defects.cfm

    2. NCI Study Demonstrates That Cellular Defects in Pr
    National Cancer Institute
    http://www.nih.gov/news/pr/mar2005/nci-06.htm

Seniors

    1. Low Blood Sodium in Older Adults (Hyponatremia)
    Mayo Foundation for Medical Education and Research
    http://www.mayoclinic.com/invoke.cfm?id=AN00621

Specific Conditions

    1. Amino Acid Metabolism Disorders
    Merck & Co., Inc.
    http://www.merck.com/mmhe/sec23/ch282/ch282c.html

    2. Methylmalonic Aciduria (MMA)
    Save Babies Through Screening Foundation
    http://www.savebabies.org/diseasedescriptions/methylmalonicaciduria.htm

    3. What Is Progeria?
    Progeria Research Foundation, Inc.
    http://www.progeriaresearch.org/what_is_progeria.shtml

    4. Guide to Understanding Sanfilippo Syndrome: Mucopo
    National MPS Society
    http://www.mpssociety.org/images/pdfs/booklets/MPS%20III%20final.pdf

    5. Guide to Understanding Morquio Syndrome: Mucopolys
    National MPS Society
    http://www.mpssociety.org/images/pdfs/booklets/MPS%20IV%20final.pdf

    6. Guide to Understanding Maroteaux-Lamy Syndrome: Mu
    National MPS Society
    http://www.mpssociety.org/images/pdfs/booklets/MPS%20VI%20final.pdf

    7. Guide to Understanding I-Cell Disease and Pseudo-H
    National MPS Society
    http://www.mpssociety.org/images/pdfs/booklets/I-Cell%20final.pdf

    8. Guide to Understanding Hurler, Hurler-Scheie and S
    National MPS Society
    http://www.mpssociety.org/images/pdfs/booklets/MPS%20I%20final.pdf

    9. Guide to Understanding Hunter Syndrome: Mucopolysa
    National MPS Society
    http://www.mpssociety.org/images/pdfs/booklets/MPS%20II%20final.pdf

    10. Genes and Disease: Glucose Galactose Malabsorption
    National Center for Biotechnology Information
    http://www.ncbi.nlm.nih.gov/books/bv.fcgi?call=bv.View..ShowSection&rid=gnd...

    11. G6PD Deficiency (Glucose-6-Phosphate Dehydrogenase
    Nemours Foundation
    http://kidshealth.org/parent/general/aches/g6pd.html

    12. Carnitine Palitoyl Transferase Deficiency Type II
    Save Babies Through Screening Foundation
    http://www.savebabies.org/diseasedescriptions/cptII.htm

    13. Carbohydrate Metabolism Disorders
    Merck & Co., Inc.
    http://www.merck.com/mmhe/sec23/ch282/ch282b.html

    14. Biotinidase Deficiency
    Save Babies Through Screening Foundation
    http://www.savebabies.org/diseasedescriptions/biotinidase.htm

    15. Barth Syndrome
    National Institute of Neurological Disorders and Stroke
    http://www.ninds.nih.gov/disorders/barth/barth.htm

    16. Amyloidosis
    Merck & Co., Inc.
    http://www.merck.com/mmhe/sec25/ch304/ch304a.html

    17. Amyloidosis
    Mayo Foundation for Medical Education and Research
    http://www.mayoclinic.com/invoke.cfm?id=DS00431

    18. About Barth Syndrome
    Barth Syndrome Foundation
    http://www.barthsyndrome.org/aboutbarth.html

    19. Guide to Understanding Sly Syndrome: Mucopolysacch
    National MPS Society
    http://www.mpssociety.org/images/pdfs/booklets/MPS%20VII%20final.pdf

    20. Hypophosphatasia
    Osteoporosis and Related Bone Diseases-National Resource Center
    http://www.osteo.org/newfile.asp?doc=i102i&doctitle=Hypophosphatasia&doctyp...

    21. Learning about Progeria
    National Human Genome Research Institute
    http://www.genome.gov/11007255

    22. What Is Hyperoxaluria and Oxalosis?
    Oxalosis and Hyperoxaluria Foundation
    http://www.ohf.org/about_disease.html

    23. What Is a Urea Cycle Disorder?
    National Urea Cycle Disorders Foundation
    http://www.nucdf.org/what_is.htm

    24. Type I Glycogen Storage Disease
    American Liver Foundation
    http://www.liverfoundation.org/cgi-bin/dbs/articles.cgi?db=articles&uid=def...

    25. Pyruvate Metabolism Disorders
    Merck & Co., Inc.
    http://www.merck.com/mmhe/sec23/ch282/ch282e.html

    26. Propionic Acidemia
    Save Babies Through Screening Foundation
    http://www.savebabies.org/diseasedescriptions/pa.htm

    27. Pompe Disease
    National Institute of Neurological Disorders and Stroke
    http://www.ninds.nih.gov/disorders/pompe/pompe.htm

    28. Nonketotic Hyperglycinemia
    Save Babies Through Screening Foundation
    http://www.savebabies.org/diseasedescriptions/nkh.htm

    29. Multiple CoA Carboxylase Deficiency
    Save Babies Through Screening Foundation
    http://www.savebabies.org/diseasedescriptions/multiplecoacarboxylase.htm

    30. Mucopolysaccharidoses
    National Institute of Neurological Disorders and Stroke
    http://www.ninds.nih.gov/disorders/mucopolysaccharidoses/detail_mucopolysac...

    31. Mucolipidoses
    National Institute of Neurological Disorders and Stroke
    http://www.ninds.nih.gov/disorders/mucolipidoses/detail_mucolipidoses.htm

    32. Mitochondrial Myopathies
    Muscular Dystrophy Association
    http://www.mdausa.org/publications/mitochondrial_myopathies.html

    33. Metabolic Diseases of Muscle
    Muscular Dystrophy Association
    http://www.mdausa.org/publications/fa-metab.html

    34. Lipid Metabolism Disorders
    Merck & Co., Inc.
    http://www.merck.com/mmhe/sec23/ch282/ch282d.html

    35. Lesch-Nyhan Syndrome
    National Institute of Neurological Disorders and Stroke
    http://www.ninds.nih.gov/disorders/lesch_nyhan/lesch_nyhan.htm

    36. Learning about Trimethylaminuria
    National Human Genome Research Institute
    http://www.genome.gov/11508983

Treatment

    1. FDA Approves First Treatment for Genetic Metabolic
    Food and Drug Administration
    http://www.fda.gov/bbs/topics/ANSWERS/2003/ANS01218.html


 



Genetics News From Medical News Today
Latest Health News and Medical News posted throughout the day, every day.

29 Jul 2010 at 5:00am
Ever notice some people seem to eat anything they want and never gain a pound, while others seem to gain weight just by looking at fattening foods? You may be seeing things correctly after all. According to research published in the July 2010 issue of Genetics, this may have a biological cause...
29 Jul 2010 at 4:00am
An accurate, faster testing option to identify female carriers and other patients with genetic abnormalities that cause Fragile X Syndrome is now available to physicians in all fifty states with the recent approval in New York. Fragile X is the leading cause of inherited mental retardation and the most common known single gene cause of autism...
29 Jul 2010 at 2:00am
In biology and genetics, the concept of epistasis is what gives rise to the whole being more (or less) than the sum of its parts. The quantitative effect of a given mutation upon the traits of an organism has the potential to depend strongly upon the gene versions present in other parts of the genome, or even other mutations co-occurring in that gene...
29 Jul 2010 at 2:00am
Research co-authored by Viral Genetics, Inc., (Pink Sheets: VRAL) lead scientist Dr. M. Karen Newell has been published in the peer-reviewed Journal of Leukocyte Biology (JLB). Newell's article identifies a potential mechanism that promotes chronic inflammation, a characteristic of most autoimmune diseases. Viral Genetics has been pursing treatments for Lyme Disease and HIV/AIDS...
28 Jul 2010 at 7:00am
A Florida State University biochemist who studies a group of proteins linked to several inherited diseases has received a major grant to advance his research toward a better understanding of cellular secretion, which is linked to a wide range of diseases. That research could one day lead to new treatments for those diseases...
28 Jul 2010 at 4:00am
Using chemical "nanoblasts" that punch tiny holes in the protective membranes of cells, researchers have demonstrated a new technique for getting therapeutic small molecules, proteins and DNA directly into living cells...
28 Jul 2010 at 3:00am
Iverson Genetic Diagnostics announced the company has received approval from CMS to conduct a WARFARIN Clinical Study. The two-year study will assess the impact of genetic information in calculating doses and the changes in the rate of adverse events when initiating Warfarin drug therapy. These changes will be compared against doses initiated without genetic data...
28 Jul 2010 at 2:00am
Researchers at the University of Pennsylvania have developed a new, carbon-based nanoscale platform to electrically detect single DNA molecules...
27 Jul 2010 at 4:00am
Drugs such as everolimus that target the protein mTOR are used to treat several forms of cancer, but not all patients respond to the treatment. A team of researchers, led by Alberto Bardelli, at the University of Turin Medical School, Italy, has now identified a way to help predict which patients will respond to such drugs...
27 Jul 2010 at 2:00am
Asuragen, Inc. announced the results from two collaborative studies, one with the University of California Davis M.I.N.D. Institute and another with Rush University Medical Center, that demonstrate comprehensive molecular profiling of the Fragile X Mental Retardation (FMR1) gene using advanced PCR-based methods...
26 Jul 2010 at 7:00am
Genome Canada and the Canadian Institutes of Health Research (CIHR) are pleased to announce a partnered program called "Advancing Technology Innovation through Discovery"...
26 Jul 2010 at 4:00am
It can make blood look like cream of tomato soup. Patients with high levels of triglycerides in their blood, a disease called hypertriglyceridemia (HTG) face an increased risk for heart disease and stroke. HTG affects one in 20 people in North America and is also associated with obesity, diabetes and pancreatitis...
26 Jul 2010 at 3:00am
Oregon Health & Science University Knight Cancer Institute researchers found that the GRB7 gene drives an aggressive form of breast cancer and acts independently of the HER-2 gene, known to be a stimulator of breast cancer growth. Isolating the role of this gene could ultimately help fine-tune a patient's treatment and enable physicians to provide a more accurate prognosis...
26 Jul 2010 at 3:00am
Researchers have long known that humans lack a key enzyme -- one possessed by most of the animal kingdom and even plants -- that reverses severe sun damage. For the first time, researchers have witnessed how this enzyme works at the atomic level to repair sun-damaged DNA. The discovery holds promise for future sunburn remedies and skin cancer prevention...
26 Jul 2010 at 2:00am
A shared decision-making process would assist doctors and parents who are facing the extraordinarily complex, challenging and controversial choices presented when infants are born with genetic or anatomical anomalies in sexual development and are being considered for elective corrective surgery, a new research paper suggests...

 

 

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