Archives Of Pathology And Laboratory Medicine 127:e325-e328, 2003 propionic acidemia A Neuropathology Case Report and Review of Prior Cases propionic acidemia is a disorder of branchchain amino acid and odd-chain http://arpa.allenpress.com/arpaonline/?request=get-abstract&doi=10.1043/1543-216
Journal Of Pediatric Hematology Oncology - UserLogin propionic acidemia With Myelodysplasia and Neutropenia in a Turkish Child propionic acidemia is an inherited metabolic disorder. http://www.jpho-online.com/pt/re/jpho/fulltext.00043426-200403000-00003.htm
Expanded Newborn Screening Using Tandem Mass Spectromety Disorder name propionic acidemia Acronym PA. What is PA? What causes PA? PA stands for propionic acidemia . It is one type of organic acid disorder. http://www.newbornscreening.info/Parents/organicaciddisorders/PA.html
Extractions: Acronym: PA This fact sheet has general information about PA. Every child is different and some of these facts may not apply to your child specifically. Certain treatments may be recommended for some children but not others. All children with PA should be followed by a metabolic doctor in addition to their primary care provider. PA stands for "propionic acidemia". It is one type of organic acid disorder . People with PA have problems breaking down and using certain amino acids from the food they eat. Organic Acid Disorders: Organic acid disorders (OAs) are a group of rare inherited conditions. They are caused by
Extractions: Vol. 56 No. 9, September 1999 Featured Link E-mail Alerts Observation Article Options Full text PDF Send to a Friend Readers Reply Submit a reply Related articles in this issue Similar articles in this journal Literature Track Add to File Drawer Download to Citation Manager PubMed citation Articles in PubMed by Nyhan WL Mazi M ISI Web of Science (14) Contact me when this article is cited Topic Collections Nutritional and Metabolic Disorders Nutrition/ Malnutrition Topic Collection Alerts
Propionic Acidemia (PPA) - KP Genetics Northern California As a result, these amino acids cannot be metabolized properly causing Propionic Acid (PPA) to build up in the blood and damage the body, especially the http://www.dor.kaiser.org/genetics/home/ppa.htm
Extractions: Detailed Definition PPA is a condition that occurs when the body lacks an enzyme needed to break down (metabolize) protein. When this enzyme is missing, parts of the protein build up in the body and cause damage to the nervous system, especially the brain. If left untreated, PPA can result in vomiting, anorexia, cardiac problems, blood disorders, failure to thrive, develomental delays, mental retardation, and even death. People with PPA also have trouble metabolizing several types of fatty acids (specifically, these include some of the odd-chain and polyunsaturated fatty acids). Causes/Types PPA is an inherited disorder. The mode of inheritance is called "autosomal recessive", meaning that each parent carries a gene for the disorder that is passed on to the baby. PPA is caused by a malfunction in a pair of genes. Genes give the body the instructions it needs for growth and healthy development. They come in pairs and a baby receives one copy of each gene from the mother and one from the father. Everyone has some genes that have the potential to cause serious disease. Whether they do or not is beyond human control. There is nothing any parent can do to cause or prevent a change in a gene.
REFERENCES (2002) propionic acidemia Analysis of mutant propionylCoA carboxylase enzymes expressed in Escherichia coli. Hum Mutat. 19(6)629-40. MEDLINE http://www.uchsc.edu/cbs/pcc/references.htm
Extractions: REFERENCES * An asterisk denotes an unpublished observation. PCCA Mutations Campeau E , Dupuis L, Leclerc D, Gravel RA Detection of a normally rare transcript in propionic acidemia patients with mRNA destabilizing mutations in the PCCA gene. Hum Mol Genet [MEDLINE] Campeau E , Dupuis L, Le on-Del-Rio A, Gravel R Coding sequence mutations in the alpha subunit of propionyl-CoA carboxylase in patients with propionic acidemia. Mol Genet Metab [MEDLINE] Campeau E, Desviat LR, Leclerc D, Perez B, Ugarte M, Gravel RA. Structure of the pcca gene and distribution of mutations causing propionic acidemia. Mol Genet Metab Sep-Oct;74(1-2):238-47 [MEDLINE] Desviat LR, Campeau E, Leclerc D, Perez B, Ugarte M, Scherer S, Gravel RA. Structure of the PCCA gene and identification of novel mutations in propionic acidemia. J Inherit Metab Dis (Suppl.1), p56 [MEDLINE not available]
About PCC propionic acidemia was first described in 1961 by Childs et al. (1961). PropionylCoA carboxylase deficiency causes propionic acidemia http://www.uchsc.edu/cbs/pcc/about_pcc.htm
Extractions: Propionic acidemia was first described in 1961 by Childs et al. (Fenton and Rosenberg 1995) . Surtees et al. have also reported a high prevalence of neurologic sequelae, including dystonia, severe chorea, and pyramidal signs, particularly in patients who survive longer. Leukopenia and thrombocytopenia, perhaps due to marrow suppression by one or more of the toxic metabolites produced, is also not uncommon. Recently, magnetic resonance imaging of the brain in three PCC patients revealed delayed myelination and some cerebral atrophy. Proton magnetic resonance spectroscopy from a voxel located in basal ganglia revealed a decrease in N-acetylaspartate and myo-inositol peaks and an elevation of GLN/GLU. The presence of spectroscopic abnormalities indicates that the metabolic balance on cerebral parenchymal level is less optimal than estimated from biochemical analysis of urine, plasma, or cerebrospinal fluid (Bergman et al. 1996). Biochemically, patients with this disorder present with elevated levels of propionic acid, methylcitrate
NICHD BRAIN AND TISSUE BANK FOR DEVELOPMENTAL DISORDERS CENTRAL DISORDER propionic acidemia AGE 19 year(s) 195 day(s) SEX Male RACE Caucasian POST MORTEM INTERVAL 24 hour(s) LENGTH OF TIME IN STORAGE AS OF NOVEMBER http://medschool.umaryland.edu/BTBank/M3385M.htm
Extractions: ExPASy Home page Site Map Search ExPASy Contact us Swiss-Prot Search Swiss-Prot/TrEMBL Swiss-Prot/TrEMBL (full text) PROSITE SWISS-2DPAGE ENZYME NEWT Taxonomy HAMAP families ExPASy web site for The ExPASy Server requires Javascript to be fully functional. You may not see all the information available for this page (More information) Entry info Name and origin References Comments ... Tools Note: most headings are clickable, even if they don't appear as links. They link to the user manual or other documents Entry information Entry name Primary accession number Secondary accession number Entered in Swiss-Prot in Release 05, August 1987 Sequence was last modified in Release 34, October 1996 Annotations were last modified in Release 47, May 2005 Name and origin of the protein Protein name Propionyl-CoA carboxylase beta chain, mitochondrial [Precursor] Synonyms EC
Extractions: ExPASy Home page Site Map Search ExPASy Contact us Swiss-Prot Search Swiss-Prot/TrEMBL Swiss-Prot/TrEMBL (full text) PROSITE SWISS-2DPAGE ENZYME NEWT Taxonomy HAMAP families ExPASy web site for The ExPASy Server requires Javascript to be fully functional. You may not see all the information available for this page (More information) Entry info Name and origin References Comments ... Tools Note: most headings are clickable, even if they don't appear as links. They link to the user manual or other documents Entry information Entry name Primary accession number Secondary accession number Entered in Swiss-Prot in Release 05, August 1987 Sequence was last modified in Release 38, July 1999 Annotations were last modified in Release 48, September 2005 Name and origin of the protein Protein name Propionyl-CoA carboxylase alpha chain, mitochondrial [Precursor] Synonyms EC
Extractions: This Article Abstract FREE Full Text (PDF) Alert me when this article is cited ... Alert me if a correction is posted Services Email this article to a friend Similar articles in this journal Similar articles in ISI Web of Science Similar articles in PubMed ... Download to citation manager Search for citing articles in:
Extractions: This Article Full Text FREE Full Text (PDF) Alert me when this article is cited ... Alert me if a correction is posted Services Email this article to a friend Similar articles in this journal Similar articles in ISI Web of Science Similar articles in PubMed ... Download to citation manager Search for citing articles in: McGill University, Departments of Biology, Human Genetics and Pediatrics, Montreal Children's Hospital Research Institute, Suite 222, 4060 Ste-Catherine Ouest, Montreal, Quebec H3Z 2Z3, Canada. Propionic acidemia is an autosomal recessive disorder caused by a deficiency in the mitochondrial enzyme propionyl-CoA carboxylase (PCC). PCC
The Health Library Nutritional & Metabolic propionic acidemiaNWRNSP PDF. propionic acidemia (Propionyl CoA Carboxylase Deficiency)eMedicine propionic acidemiaGenetics Home Reference, NLM http://healthlibrary.stanford.edu/resources/internet/bodysystems/metabolic_np.ht
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