Rare Pediatric Tumor Database propionic acidemia (PA) Document ID 278. SIGNS SYMPTOMS Children with propionicacidemia usually present with serious illness very early in life. http://www.madisonsfoundation.org/content/3/1/display.asp?did=278
Program Nr 1585 Program Nr 1585 Hyperammonemia and amino acid profiles in propionic acidemia. Hyperammonemiais a common complication in patients with propionic acidemia. http://www.faseb.org/genetics/ashg00/f1585.htm
Extractions: Program Nr: 1585 Hyperammonemia and amino acid profiles in propionic acidemia. Z.N. Al-Hassnan , S.A. Boyadjiev , V. Praphanphoj , A. Hamosh , N.E. Braverman , G.H. Thomas , M.T. Geraghty 1) McKusick-Nathans Inst.of Genetic Medicine, Johns Hopkins University,; 2) Kennedy-Krieger Inst., Baltimore, MD.
Causes And Treatments Of Seizures Methylmalonic acidemia has amino and organic acid profiles similar to propionic acidemia,but also has very high levels of methylmalonic acid and higher lactic http://pediatricneuro.com/alfonso/pg77.htm
Extractions: Methylmalonic acidemia has amino and organic acid profiles similar to propionic acidemia, but also has very high levels of methylmalonic acid and higher lactic acid levels than propionic acidemia due to inhibition of pyruvate carboxylase. Some patients with methylmalonic acidemia also show homocystinuria, hypomethioninemia, and cystothioninuria. Propionic and methylmalonic acidemias may produce pancytopenia. The diagnosis of propionic and methylmalonic acidemias are established by finding decreased activity of propionyl-CoA carboxylase in leukocytes or cultured skin fibroblasts and decreased activity of methylmalonyl-CoA mutase in liver and cultured fibroblasts. A neutral pH does not exclude propionic and methylmalonic acidemias since the lactic acid elevation that occurs with these organic acidemias is usually in the 3 to 6 mmol/L range and a neutral pH is maintained until levels of lactic acids are at least 5 mmol/L. Treatment of propionic and methylmalonic acidemias consists of metabolic support, elimination of protein intake, removal of ammonia, and carnitine supplementation. In addition, neonates with propionic acidemia should be given biotin and those with methylmalonic acidemia should be given vitamin B12. Propionyl-CoA carboxylase deficiency also occurs in multiple carboxylase deficiency.
Extractions: Web Pages - ranked by popularity Dr. Greene: Breastfeeding with a Metabolic Disorder and Propionic Acidemia http://www.drgreene.com/21_692.html Breastfeeding a child with propionic acidemia is discussed in this question and answer format. NORD: Acidemia, Propionic http://www.rarediseases.org/search/rdbdetail_abstract.html?disname=Acidemia%2C%20Propionic Includes the synonyms, a general discussion and further resources. eMedicine http://www.emedicine.com/NEURO/topic577.htm An in depth look at Propionic acidemia. Pediatric Database http://www.icondata.com/health/pedbase/files/PROPIONI.HTM Offers a definition of propionic acidemia as well as the epidemiology, pathogenesis, clinical features, investigations and management.
Www.icondata.com/health/pedbase/files/propioni.htm Organic Acidemia Management The most common organic acidemias are propionic acidemia (PPA) and methylmalonicacidemia (MMA). Propionic/ Methylmalonic acidemia. Isoleucine (mg/kg). 3090. http://www.icondata.com/health/pedbase/files/propioni.htm
OS 1/OS 2 For Consumers For use in the nutritional management of infants, children, or adultswith propionic acidemia, or methylmalonic aciduria. Propionic http://www.meadjohnson.com/metabolics/2os1os2.html
Extractions: For use in the nutritional management of infants, children, or adults with propionic acidemia, or methylmalonic aciduria Propionic acidemia is a disorder caused by a problem with the enzyme propionyl CoA carboxylase, one of the enzymes needed to break down amino acids. If untreated, this disorder can cause serious health problems. OS 1 and OS 2 are vitamin- and mineral-enriched formulas that contain L-amino acids, but without isoleucine, methionine, threonine, and valine. They're designed for the special diets of people with propionic acidemia or methylmalonic aciduria (vitamin B -independent form). OS 1 is for infants, and OS 2 is for children and adults. Total daily formula amounts depend on protein needs, usually based on body weight and age, as well as individual tolerances for isoleucine, threonine, methionine, and valine. In addition to OS 1 or OS 2, it's important to include enough fat and carbohydrate, as well as isoleucine, methionine, threonine, and valine (depending on how much the person can tolerate), in the diet. It may also be necessary to add carnitine. It's important that a doctor carefully and constantly supervises the use of OS 1 and OS 2, and other foods, and adjust the diet based on frequent blood tests. Your metabolic specialist can guide you as to which foods to include in the diet, and in what amounts.
Entrez PubMed Click here to read propionic acidemia a neuropathology case report andreview of prior cases. Feliz B, Witt DR, Harris BT. Department http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&dopt=Abstra
Entrez PubMed Click here to read Neurologic nonmetabolic presentation of propionicacidemia. Nyhan WL, Bay C, Beyer EW, Mazi M. Department of http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&dopt=Abstra
NodeWorks - Genetic Disorders: Propionic Acidemia thumbnail, 1. Dr. Greene Breastfeeding with a Metabolic Disorder and PropionicAcidemia Breastfeeding a child with propionic acidemia is discussed in this http://dir.nodeworks.com/Health/Conditions_and_Diseases/Genetic_Disorders/Propio
Extractions: in entire NodeWorks Directory in Health in Genetic Disorders in ++ Propionic Acidemia Top Health Genetic Disorders Propionic Acidemia A disorder of branch-chain amino acid metabolism characterized by the build-up of propionic acid resulting in episodes of vomiting, dehydration, and severe metabolic acidosis. Dr. Greene: Breastfeeding with a Metabolic Disorder and Propionic Acidemia Breastfeeding a child with propionic acidemia is discussed in this question and answer format. eMedicine An in depth look at Propionic acidemia. NORD: Acidemia, Propionic Includes the synonyms, a general discussion and further resources.
Extractions: maple syrup urine disease (MSUD), propionic acidemia, methylmalonic acidemia (MMA), isovaleric acidemia, biotin-unresponsive 3-methylcrotonyl-CoA carboxylase deficiency, 3-hydroxy-3-methylglutaryl-CoA (HMG-CoA) lyase deficiency, ketothiolase deficiency, and glutaric acidemia type I (GA I) Professional Genetics Societies Genetic clinics, centers, departments
New Page 1 propionic acidemia assoicated to Health Just The Best Results fromthe Linkspider Organization. Click here for propionic acidemia http://www.linkspider.org/index.cgi/Health/ConditionsandDiseases/GeneticDisorder
Extractions: Keyword Search: Propionic Acidemia assoicated to Health Search For: Match » -All words -Any word -Exact text Content » The Web Jobs / Vacancy Images / Photos FTP / Downloads United Kingdom United States of America Argentina Austria Australia Bangladesh Belgium Bolivia Brazil Bulgaria Canada Chile China Cuba Cyprus Czech Republic Czechoslovakia Denmark Dominican Republic Ecuador Egypt Estonia Finland France Germany Ghana Greece Hong Kong Hungary Iceland India Indonesia Ireland Israel Italy Japan Jordan Kenya Kuwait Latvia Lithuania Luxembourg Malaysia Malta Mexico Moldavia Monaco Morocco Mozambique Nepal Netherlands New Zealand Nicaragua Nigeria North Korea Norway Pakistan Panama Paraguay Peru Philippines Poland Portugal Qatar Romania Russian Federation Saudi Arabia Singapore South Africa South Korea Spain Sri Lanka Sweden Switzerland Taiwan Tanzania Thailand Tunisia Turkey Ukraine United Arab Emirates Uruguay Venezuela Yemen Yugoslavia Zambia Zimbabwe Ranking » On (no duplicate) Off (allow duplicate) Per-Page » default All Results Timeout » default 1 second 2 seconds 3 seconds 4 seconds 5 seconds 6 seconds 7 seconds 8 seconds 9 seconds 10 seconds 12 seconds 15 seconds 20 seconds Search Bar Download Suggest a Site Personalize Directory Tree: Top Health Conditions and Diseases Genetic Disorders : Propionic Acidemia (
South African Journal Of Science A recent achievement in the department was the prenatal diagnosis ofpropionic acidemia, an often fatal deficiency condition. This http://www.nrf.ac.za/sajs/sm_feb98.stm
Extractions: Volume 94 No. 2 February 1998 Prenatal detection of inborn errors of metabolism The latest developments in mass spectrometry provide a highly sensitive and flexible means of automatically screening for biological markers. This extends the range of detecting sometimes fatal genetic disorders, in an unborn baby for instance, from the presence and ratios of certain chemicals in a blood sample. The Department of Biochemistry and Microbiology at Potchefstroom University considers that more than 400 human disorders may be caused by mutations of a single gene. Most of the individual diseases are quite rare but collectively their incidence is considerable. Approximately 100 inborn errors of metabolism can now be detected prenatally, most by testing for the primary enzyme defect, some by measuring abnormal amounts of specific metabolites or high molecular weight storage material, and some by demonstrating the mutation at DNA level. Having recently acquired a Micromass Quatro II triple quadrupole LCMS/MS for tandem mass spectrometry, the department has progressed from its earlier gas phase system to a liquid one able rapidly to analyse acylcarnitine metabolites, amino acids and bile acids in whole blood and urine. The apparatus is so versatile that it can also be used for peptide and protein analysis.
DiseaseSeek.com Propionic_Acidemia Conditions and Diseases Genetic Disorders propionic acidemia Found3 sites about propionic acidemia. eMedicine profile - http http://www.diseaseseek.com/categories/Health__Conditions_and_Diseases__Genetic_D
Neurology -- Abstracts: Sethi Et Al. 39 (10): 1343 Adultonset chorea and dementia with propionic acidemia. propionic acidemia usuallypresents in the newborn period with severe metabolic acidosis and lethargy. http://www.neurology.org/cgi/content/abstract/39/10/1343
Extractions: Department of Neurology, Medical College of Georgia, Augusta. Propionic acidemia usually presents in the newborn period with severe metabolic acidosis and lethargy. A 31-year-old man with adult onset chorea and dementia had propionic acidemia due to propionyl CoA carboxylase deficiency. Metabolic investigations may prove useful in patients with movement disorder of unknown etiology.
Prof. K.-J. Hsiao 2. Organic aciduria (acidemia) To establish a biochemical analysis system for confirmatoryand differential diagnosis of propionic acidemia and methylmalonic http://www.ym.edu.tw/ig/hsiao/
Extractions: 2003 present Jointly Appointed Professor, Institute of Bioinformatics National Yang Ming University ( YMU 2000.5 present Director, Genome Research Center ( YMGC , National Yang Ming University 1998 present Jointly Appointed Professor, Institute of Biotechnology in Medicine , National Yang Ming University 1990 present Professor, Institute of Genetics , National Yang Ming University 1990 present Adjunct Investigator Taipei Veterans General Hospital ( VGH 2000.8 2003.7 Chairman, Institute of Genetics, National Yang Ming University 1996 1998 Director, Department of Research Resources National Health Research Institutes ( NHRI Taiwan 1990 1993 Dean of General Affairs, National Yang Ming College of Medicine, Taipei, Taiwan 1982 1990 Adjunct Assoiciate Professor and Professor
Sodbrennen-Welt - Über Die Gesundheit Von Magen Und Speiseröhre 1978 Mar; 92(3) 43941. Biotin-responsive propionic acidemia presenting as therumination syndrome. Hillman RE, Keating JP, Williams JC. No abstract. http://www.sodbrennen-welt.de/science/1978/1978_632987.htm
