Diseases & Conditions


A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

Acidemia, Propionic


Synonyms of Acidemia, Propionic
  • Hyperglycinemia with Ketoacidosis and Lactic Acidosis, Propionic Type
  • Ketotic Glycinemia
  • PCC Deficiency
  • Propionyl CoA Carboxylase Deficiency

Disorder Subdivisions

  • Propionic Acidemia, Type II (PCCB Deficiency)
  • Propionic Acidemia, Type I (PCCA Deficiency)


General Discussion
Propionic Acidemia is a rare metabolic disorder characterized by deficiency of propionyl CoA carboxylase, an enzyme involved in the breakdown (catabolism) of the chemical building blocks (amino acids) of certain proteins. Symptoms most commonly become apparent during the first weeks of life and may include abnormally diminished muscle tone (hypotonia), poor feeding, vomiting, listlessness (lethargy), excessive loss of fluids from bodily tissues (dehydration), and episodes of uncontrolled electrical activity in the brain (seizures). Without appropriate treatment, coma and potentially life-threatening complications may result. In rare cases, the condition may become apparent later during infancy and may be associated with less severe symptoms and findings. Propionic Acidemia is inherited as an autosomal recessive trait.
.

Organizations related to Acidemia, Propionic
  • CLIMB (Children Living with Inherited Metabolic Diseases)
    Climb Building
    Crewe Intl CW2 6BG
    Phone #: +44- 87-0 7700 325
    800 #: --
    e-mail: info@climb.org.uk
    Home page: http://www.CLIMB.org.uk
  • MUMS (Mothers United for Moral Support, Inc) National Parent-to-Parent Network
    150 Custer Court
    Green Bay WI 54301-1243
    Phone #: 920-336-5333
    800 #: 877-336-5333
    e-mail: mums@netnet.net
    Home page: http://www.netnet.net/mums/
  • Madisons Foundation
    PO Box 241956
    Los Angeles CA 90024
    Phone #: 310-264-0826
    800 #: N/A
    e-mail: getinfo@madisonsfoundation.org
    Home page: http://www.madisonsfoundation.org
  • NIH/National Digestive Diseases Information Clearinghouse
    2 Information Way
    Bethesda MD 20892-3570
    Phone #: 301-654-3810
    800 #: 800-891-5389
    e-mail: nddic@info.niddk.nih.gov
    Home page: http://www.niddk.nih.gov
  • Organic Acidaemias UK
    5 Saxon Road
    Middlesex Intl TW15 1QL
    Phone #: 44--178-4-245989
    800 #: --
    e-mail: davidpriddy@bigfoot.com
    Home page: N/A
  • Organic Acidemia Association
    13210 35th Avenue North
    Plymouth MN 55441
    Phone #: 763-559-1797
    800 #: --
    e-mail: OAANews@aol.com
    Home page: http://www.oaanews.org
  • Propionic Acidemia Foundation
    1963 McCraren Rd
    Highland Park IL 60035
    Phone #: 877-720-2192
    800 #: 877-720-2192
    e-mail: paf@pafoundation.com
    Home page: http://www.pafoundation.com
  • The Arc (a national organization on mental retardation)
    1010 Wayne Ave
    Silver Spring MD 20910
    Phone #: 301-565-3842
    800 #: 800-433-5255
    e-mail: info@thearc.org
    Home page: http://www.thearc.org/



For a Complete Report

This is an abstract of a report from the National Organization for Rare Disorders, Inc. ? (NORD). A copy of the complete report can be obtained for a small fee by visiting the NORD website. The complete report contains additional information including symptoms, causes, affected population, related disorders, standard and investigational treatments (if available), and references from medical literature. For a full-text version of this topic, see http://www.rarediseases.org/search/rdblist.html

GÜNCEL SAĞLIK HABERLERİ

Sizce hangisi en güçlü doğal antibiyotiktir? Katılım: 1947