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"Resources" on this report.
Copyright 1988, 1989, 2000, 2002, 2007
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.
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Organizations related to Acidemia, Propionic
- Arc (a national organization on mental retardation)
1010 Wayne Ave
Suite 650
Silver Spring MD 20910
Phone #: 301-565-3842
800 #: 800-433-5255
e-mail: info@thearc.org
Home page: http://www.thearc.org/
- CLIMB (Children Living with Inherited Metabolic Diseases)
Climb Building
176 Nantwich Road
Crewe Intl CW2 6BG
Phone #: +44- 87-0 7700 325
800 #: --
e-mail: info.svcs@climb.org.uk
Home page: http://www.CLIMB.org.uk
- Genetic and Rare Diseases (GARD) Information Center
PO Box 8126
Gaithersburg MD 20898-8126
Phone #: 301-251-4925
800 #: 888-205-2311
e-mail: ordr@od.nih.gov
Home page: http://rarediseases.info.nih.gov/Default.aspx
- 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
Ashford
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
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