Health Topics

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

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