Skip to content

    Children's Health

    Font Size
    A
    A
    A

    Nonketotic Hyperglycinemia

    Important
    It is possible that the main title of the report Nonketotic Hyperglycinemia is not the name you expected. Please check the synonyms listing to find the alternate name(s) and disorder subdivision(s) covered by this report.

    Synonyms

    • Glycinemia, Nonketotic
    • Hyperglycinemia, Nonketotic

    Disorder Subdivisions

    • None

    General Discussion

    Nonketotic hyperglycinemia is an inborn error of metabolism characterized by the accumulation of large amounts of the amino acid glycine in blood, urine and, particularly, the cerebrospinal fluid (CSF). The metabolic block occurs in the conversion of glycine into smaller molecules. There are four forms of this disorder: a relatively common neonatal form, an infantile form, a mild-episodic form, and a late-onset form.

    Resources

    CLIMB (Children Living with Inherited Metabolic Diseases)
    Climb Building
    176 Nantwich Road
    Crewe, CW2 6BG
    United Kingdom
    Tel: 4408452412173
    Fax: 4408452412174
    Email: enquiries@climb.org.uk
    Internet: http://www.CLIMB.org.uk

    Vaincre Les Maladies Lysosomales
    2 Ter Avenue
    Massy, 91300
    France
    Tel: 0169754030
    Fax: 0160111583
    Email: accueil@vml-asso.org
    Internet: http://www.vml-asso.org

    The Arc
    1825 K Street NW, Suite 1200
    Washington, DC 20006
    Tel: (202)534-3700
    Fax: (202)534-3731
    Tel: (800)433-5255
    TDD: (817)277-0553
    Email: info@thearc.org
    Internet: http://www.thearc.org

    Organic Acidaemias UK
    5, Saxon Road
    Ashford
    Middlesex, TW15 1QL
    United Kingdom
    Tel: 4401784245989
    Email: info.oauk@gmail.com
    Internet: http://myweb.tiscali.co.uk/priddy/

    NIH/National Institute of Diabetes, Digestive & Kidney Diseases
    Office of Communications & Public Liaison
    Bldg 31, Rm 9A06
    31 Center Drive, MSC 2560
    Bethesda, MD 20892-2560
    Tel: (301)496-3583
    Email: NDDIC@info.niddk.nih.gov
    Internet: http://www2.niddk.nih.gov/

    NKH International Family Network
    1401 Ridgefield Avenue
    Ocoee, FL 34761
    USA
    Tel: (407)484-8479
    Email: wolfieworks@juno.com
    Internet: http://www.nkh-network.org

    Genetic and Rare Diseases (GARD) Information Center
    PO Box 8126
    Gaithersburg, MD 20898-8126
    Tel: (301)251-4925
    Fax: (301)251-4911
    Tel: (888)205-2311
    TDD: (888)205-3223
    Internet: http://rarediseases.info.nih.gov/GARD/

    For a Complete Report:

    This is an abstract of a report from the National Organization for Rare Disorders (NORD). A copy of the complete report can be downloaded free from the NORD website for registered users. The complete report contains additional information including symptoms, causes, affected population, related disorders, standard and investigational therapies (if available), and references from medical literature. For a full-text version of this topic, go to www.rarediseases.org and click on Rare Disease Database under "Rare Disease Information".

    The information provided in this report is not intended for diagnostic purposes. It is provided for informational purposes only. NORD recommends that affected individuals seek the advice or counsel of their own personal physicians.

    It is possible that the title of this topic is not the name you selected. Please check the Synonyms listing to find the alternate name(s) and Disorder Subdivision(s) covered by this report

    This disease entry is based upon medical information available through the date at the end of the topic. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder.

    For additional information and assistance about rare disorders, please contact the National Organization for Rare Disorders at P.O. Box 1968, Danbury, CT 06813-1968; phone (203) 744-0100; web site www.rarediseases.org or email orphan@rarediseases.org

    Last Updated: 4/21/2008
    Copyright 1988, 1989, 1990, 1994, 2004 National Organization for Rare Disorders, Inc.

    WebMD Medical Reference from the National Organization for Rare Disorders

    Last Updated: May 28, 2015
    This information is not intended to replace the advice of a doctor. Healthwise disclaims any liability for the decisions you make based on this information.

    Today on WebMD

    child with red rash on cheeks
    What’s that rash?
    plate of fruit and veggies
    How healthy is your child’s diet?
     
    smiling baby
    Treating diarrhea, fever and more.
    Middle school band practice
    Understanding your child’s changing body.
     

    worried kid
    fitArticle
    jennifer aniston
    Slideshow
     
    Measles virus
    Article
    sick child
    Slideshow
     

    babyapp
    New
    Child with adhd
    Slideshow
     
    rl with friends
    fitSlideshow
    Child Coughing or Sneezing into Elbow
    Article