Extractions: (advertisement) Home Specialties Resource Centers CME ... Patient Education Articles Images CME Patient Education Advanced Search Consumer Health Link to this site Back to: eMedicine Specialties Neurology Neuro-vascular Diseases Last Updated: November 12, 2003 Rate this Article Email to a Colleague Synonyms and related keywords: propionic acidemia, propionyl-coenzyme A, CoA, carboxylase, bilateral basal ganglia infarcts, caudate, putamen, globus pallidus AUTHOR INFORMATION Section 1 of 10 Author Information Introduction Clinical Differentials ... Bibliography Author: Pitchaiah Mandava, MD, PhD , Assistant Professor, Department of Neurology, Baylor College of Medicine Coauthor(s): Thomas A Kent, MD , Chief of Neurology, Houston Veteran Affairs Medical Center; Professor, Department of Neurology, Baylor College of Medicine Pitchaiah Mandava, MD, PhD, is a member of the following medical societies: American Academy of Neurology American Medical Association , and Sigma Xi Editor(s): Richard M Zweifler, MD
NORD - National Organization For Rare Disorders, Inc. General Discussion. propionic acidemia is a rare metabolic disorder characterized by deficiency severe symptoms and findings. propionic acidemia is inherited as an autosomal http://www.rarediseases.org/search/rdbdetail_abstract.html?disname=Acidemia, Pro
Propionic Acidemia Foundation The propionic acidemia Foundation provides funding for academic researchleading to a cure for PA. WHAT IS propionic acidemia? Propionic http://www.pafoundation.com/pages/869028/
Extractions: Propionic acidemia is a genetic disorder of branched-chain amino acid metabolism. Odd chain fatty acids and cholesterol are also not metabolized correctly by PA patients, but the bulk of the damage to the body comes from consuming a diet too high in protein. Individuals with PA build up propionic acid and other toxins in their bodies if they consume too much protein containing the amino acids methionine, threonine, isoleucine and valine. PA patients are deficient in propionyl-CoA carboxylase (PCC), an enzyme responsible for utilizing these amino acids. PA patients must consume a diet low in each of these amino acids in order to avoid high levels of toxins which are harmful to the body. Modifying the diet alone, however, is often not efficient enough to prevent the ongoing damage PA individuals suffer, therefore the PAF is seeking better ways to combat this disease. Formed in 2001, the PAF was chartered by several PA families who originated the idea of funding PA research programs that have the potential of discovering a cure for PA. We are dedicated to improving the lives of all children and adults who battle PA, and to provide hope for PA children yet unborn. In 2003 the PAF became incorporated as a non-profit organization and is registered in the state of Illinois.
Extractions: QUICK SEARCH A - Z Guide Allergies Allergy Care Guide Asthma Care Guide Bedwetting Breastfeeding Childhood Obesity Diabetes Care Guide Ear Infections Genetics Immunizations Infectious Diseases Parenting Potty Training Rashes Safety Sleep About DrGreene.com Archives About Us Context Reviews Awards Readers Comments Press Room Partners and Supporters Topic Centers Contact Us Pediatric Information A-Z Guide Allergy Care Guide Asthma Care Guide Diabetes Care Guide Discussion Boards DrGreene´s Chats DrGreene´s Event Schedule FAQ Fast Facts Feature Articles Guidelines Pediatric Updates Special Feature Top Tips Community Activty Guide Advanced Search Community Central Chat Chat Schedule Cute Faces Discussion Boards Family Friendly Recipes Parent-to-Parent Resources The DrGreene Team Newsletter Prenatal Newborn Infants Toddlers Pre-Schoolers School Age Teens / Adolescents Multimedia Library Fertility Children's Health Dr. Greene, I am 8 months pregnant with a child affected by Propionic Acidemia, an inborn error of metabolism. My Doctor and Dietician warn that I will not be able to breastfeed, as the milk cannot be accurately measured. I will be able to pump, but the bonding attached to breastfeeding is something I really wanted. Do you know of any successful stories of breastfeeding with metabolic patients?
Propionic Acidemia Search Our Site! propionic acidemia (PA) An Organic Acid Disorder. What isit? Other Sites of Reference. OMIM propionic acidemia. Support Groups. http://www.savebabies.org/diseasedescriptions/pa.htm
2413: Co-incidence Of PKU And Propionic Acidemia In An Amish Girl. Coincidence of PKU and propionic acidemia in an Amish girl.S.E propionic acidemia (PA) was recently diagnosed in an Amish female infant in whom PKU had been diagnosed http://www.faseb.org/genetics/ashg99/f2413.htm
Extractions: Program Nr: 2413 Co-incidence of PKU and propionic acidemia in an Amish girl. S.E. McCandless , J.W. McConnell , D.S. Kerr 1) Dept of Pediatrics, Univ of North Carolina; 2) Rainbow Babies and Children's Hosp, and; 3) Dept of Genetics, Univ Hospitals of Cleveland/Case Western Reserve Univ. Propionic acidemia (PA) was recently diagnosed in an Amish female infant in whom PKU had been diagnosed by routine newborn screening (initial phe concentration 38 mg/dl). In addition to products of phe metabolism, methylcitrate and tiglylglycine were unexpectedly found in the urine organic acid analysis. Plasma and urine contained large amounts of propionylcarnitine. Enzyme analysis (fibroblasts) demonstrated very low propionyl-CoA carboxylase activity with normal activity of pyruvate and methylcrotonyl-CoA carboxylases. Urine pteridines were normal, as were serum biotinidase and RBC dihydropteridine reductase activities. At age 2 months, prior to treatment, she developed vomiting, decreased appetite and irritability, with metabolic acidosis and hyperammonemia (155 m
Propionic Acidemia - DrGreene.com - Caring For The Next Generation propionic acidemia can be a devastating condition, but with careful treatment it is sometimes possible for people with the disease not only to reach adulthood successfully but even to get pregnant http://www.drgreene.com/21_690.html
Extractions: QUICK SEARCH A - Z Guide Allergies Allergy Care Guide Asthma Care Guide Bedwetting Breastfeeding Childhood Obesity Diabetes Care Guide Ear Infections Genetics Immunizations Infectious Diseases Parenting Potty Training Rashes Safety Sleep About DrGreene.com Archives About Us Context Reviews Awards Readers Comments Press Room Partners and Supporters Topic Centers Contact Us Pediatric Information A-Z Guide Allergy Care Guide Asthma Care Guide Diabetes Care Guide Discussion Boards DrGreene´s Chats DrGreene´s Event Schedule FAQ Fast Facts Feature Articles Guidelines Pediatric Updates Special Feature Top Tips Community Activty Guide Advanced Search Community Central Chat Chat Schedule Cute Faces Discussion Boards Family Friendly Recipes Parent-to-Parent Resources The DrGreene Team Newsletter Prenatal Newborn Infants Toddlers Pre-Schoolers School Age Teens / Adolescents Multimedia Library Fertility Children's Health Some friends of mine recently had a baby who was diagnosed with Propionic Acidemia. Apparently this means that the baby cannot digest protein. The parents have talked with the doctors extensively about what they can do to help at home, life expectancy, etc., but they are consistently told that all cases are different and there's no way to know what to do. Apparently it comes from a mutated (or recessive maybe?) gene that has to exist in both parents for the disease to appear in the child. I don't think children with this disease live very long, nor do they develop mentally like healthy children. I think the oldest living person with the disease is 18. Any help you might provide would be greatly appreciated.Thanks in advance for your time.
Propionic Acidemia Foundation The propionic acidemia Foundation provides funding for academic researchleading to a cure for PA. propionic acidemia Research Review. http://www.pafoundation.com/pages/869029/
Extractions: Currently Funded Research Dr. Toru Miyazaki, M.D., Ph.D. The University of Texas Southwestern Medical Center, Dallas, Texas The PAF has established a Propionic Acidemia Fund at UT Southwestern Medical Center in Dallas, Texas to promote the studies of Dr. Toru Miyazaki. Dr. Miyazaki has succeeded in constructing a mutant mouse model of PA. Two genes, PCCA and PCCB are necessary for the production of propionyl-CoA carboxylase (PCC) an enzyme involved in the metabolism of the amino acids methionine, threonine, isoleucine and valine. Dr. Miyazaki's mouse model contains a mutation in PCCA and these mice are unable to make PCC. PA mutant mice exhibit symptoms of propionic acidemia similar to human PA patients including poor feeding, dehydration and accelerated ketosis progressing towards death. The construction of this mouse model is significant because scientists now have a valuable tool to observe PA gene manipulation in an animal with propionic acidemia. This allows researchers to evaluate the function of genes transferred into the animal and to see how the body responds. Experiments in mice must precede human clinical trials involving gene therapy, so it is extremely important for this research to be performed. Dr. Miyazaki has confirmed that supplementation of 15-20% PCC (propionyl-CoA carboxylase) enzyme activity via a transgene to PA mice resulted in abolishment of most PA symptoms. Treated mice were able to consume a normal diet containing a high level of protein. Additionally they grew and developed like normal mice, procreated and lived a normal lifespan.
Propionic Acidemia - DrGreene.com - Caring For The Next Generation Pediatric expert Dr. Alan Greene talks about propionic acidemia. propionic acidemia. What is propionic acidemia? propionic acidemia is what we call an inborn error of of toxic substances. propionic acidemia is an error in protein metabolism http://www.drgreene.com/21_899.html
Extractions: QUICK SEARCH A - Z Guide Allergies Allergy Care Guide Asthma Care Guide Bedwetting Breastfeeding Childhood Obesity Diabetes Care Guide Ear Infections Genetics Immunizations Infectious Diseases Parenting Potty Training Rashes Safety Sleep About DrGreene.com Archives About Us Context Reviews Awards Readers Comments Press Room Partners and Supporters Topic Centers Contact Us Pediatric Information A-Z Guide Allergy Care Guide Asthma Care Guide Diabetes Care Guide Discussion Boards DrGreene´s Chats DrGreene´s Event Schedule FAQ Fast Facts Feature Articles Guidelines Pediatric Updates Special Feature Top Tips Community Activty Guide Advanced Search Community Central Chat Chat Schedule Cute Faces Discussion Boards Family Friendly Recipes Parent-to-Parent Resources The DrGreene Team Newsletter Prenatal Newborn Infants Toddlers Pre-Schoolers School Age Teens / Adolescents Multimedia Library Fertility Children's Health What is propionic acidemia? Propionic acidemia is what we call an inborn error of metabolism . Our bodies use detailed blueprints (our genes ) to guide the manufacture of the proteins and enzymes we need to carry out the processes of life. Errors in these genes can lead either to a lack of necessary proteins or to the accumulation of toxic substances.
Pediatric Database Offers a definition of propionic acidemia as well as the epidemiology, pathogenesis, clinical features, investigations and management. http://www.icondata.com/health/pedbase/files/PROPIONI.HTM
Jordan - Propionic Acidemia Jordan This is a personal story shared by a family whose child has PropionicAcidemia (PA). I had propionic acidemia, an inborn error of metabolism. http://www.savebabies.org/familystories/JordanPA.php
Extractions: This is a personal story shared by a family whose child has Propionic Acidemia (PA). My name is Jordan Franks. I was born in Evanston, Illinois on January 28, 2000. I could see the pride and love in my parents' eyes as they beheld what they believed was their perfect little creation - all 8 lbs. 14 oz. of me. Unbeknownst to them, and the doctors and nurses, who attended to me, I was afflicted with a rare genetic disease. No one understood the signs - vomiting after birth, disinterest in nursing, rapid breathing, and sniffly nose. I thought my symptoms were loud and clear, but after two chest x-rays and the decision that it was birth trauma, I was sent home. My parents were told to bring me to the pediatrician in a couple of days to check my rapid breathing. My mom tried feeding me and I just wasn't interested and acted like I didn't like the taste. How could she possibly know that the protein in the milk was poisoning me, causing elevated ammonia levels in my blood and acidosis? The next morning I was lethargic and wouldn't startle. My mom immediately took me to the pediatrician. My temperature was 93.6 degrees and I was dehydrated. I was down to 7 pounds 12 ounces and my doctor contacted our local hospital to inform them that we were on our way. After numerous labs and being hooked up to IV fluids, my parents were told I probably had a metabolic disorder. A what? The doctors were able to get my acidosis under control; however, my ammonia levels went from 500 to 1050 and I was transported to Children's Memorial Hospital in Chicago for hemodialysis.
EMedicine - Propionic Acidemia (Propionyl CoA Carboxylase Deficiency) : Article propionic acidemia (Propionyl CoA Carboxylase Deficiency) In 1961, Childs et al published the earliest clinical report of a patient who ultimately was found to be affected by a deficiency of carboxylase, also delineated propionic acidemia from methylmalonic acidemia as a distinct http://www.emedicine.com/ped/topic1906.htm
Extractions: (advertisement) Home Specialties CME PDA ... Patient Education Articles Images CME Patient Education Advanced Search Link to this site Back to: eMedicine Specialties Pediatrics Genetics And Metabolic Disease Last Updated: December 12, 2003 Rate this Article Email to a Colleague Synonyms and related keywords: ketotic hyperglycinemia, propionyl coenzyme A carboxylase deficiency, propionate carboxylation defect, multiple carboxylase deficiency, propionyl-CoA carboxylase deficiency AUTHOR INFORMATION Section 1 of 10 Author Information Introduction Clinical Differentials ... Bibliography Author: Karl S Roth, MD , Chair, Professor, Department of Pediatrics, Creighton University School of Medicine Karl S Roth, MD, is a member of the following medical societies: Alpha Omega Alpha American Academy of Pediatrics American Association for the Advancement of Science American College of Nutrition ... Society for Pediatric Research , and Southern Society for Pediatric Research Editor(s): Erawati Bawle, MD, FAAP, FACMG
Extractions: (advertisement) Home Specialties CME PDA ... Patient Education Articles Images CME Patient Education Advanced Search Link to this site Back to: eMedicine Specialties Pediatrics Genetics And Metabolic Disease Last Updated: December 12, 2003 Rate this Article Email to a Colleague Synonyms and related keywords: ketotic hyperglycinemia, propionyl coenzyme A carboxylase deficiency, propionate carboxylation defect, multiple carboxylase deficiency, propionyl-CoA carboxylase deficiency AUTHOR INFORMATION Section 1 of 10 Author Information Introduction Clinical Differentials ... Bibliography Author: Karl S Roth, MD , Chair, Professor, Department of Pediatrics, Creighton University School of Medicine Karl S Roth, MD, is a member of the following medical societies: Alpha Omega Alpha American Academy of Pediatrics American Association for the Advancement of Science American College of Nutrition ... Society for Pediatric Research , and Southern Society for Pediatric Research Editor(s): Erawati Bawle, MD, FAAP, FACMG
Propionic Acidemia - Genetics Home Reference Genetic disorder catalog. propionic acidemia. What is propionic acidemia? Propionicacidemia threatening. How common is propionic acidemia? Propionic http://ghr.nlm.nih.gov/condition=propionicacidemia
Extractions: A service of the U.S. National Library of Medicine Home Search Conditions Genes ... Help Propionic acidemia Propionic acidemia is an inherited disorder in which the body is unable to process certain proteins and lipids (fats) properly. The condition, which usually appears in early infancy, is characterized by poor feeding, vomiting, weak muscle tone (hypotonia), and lethargy. The effects of propionic acidemia can be life-threatening. Propionic acidemia occurs in about 1 in 100,000 live births in the United States. The condition appears to be more common in Saudi Arabia, with a frequency of 1 in 2,000 to 5,000 people. Mutations in the PCCA and PCCB genes cause propionic acidemia.
Extractions: A service of the U.S. National Library of Medicine Home Search Conditions Genes ... Help Propionic acidemia These resources supplement the information in the Genetics Home Reference condition summary on propionic acidemia. Last Comprehensive Review: March 2004 Updated: April 1, 2004 Published: May 28, 2004 This is a page from Genetics Home Reference Contact Us Lister Hill National Center for Biomedical Communications U.S. National Library of Medicine ... Accessibility
Extractions: QUICK SEARCH A - Z Guide Allergies Allergy Care Guide Asthma Care Guide Bedwetting Breastfeeding Childhood Obesity Diabetes Care Guide Ear Infections Genetics Immunizations Infectious Diseases Parenting Potty Training Rashes Safety Sleep About DrGreene.com Archives About Us Context Reviews Awards Readers Comments Press Room Partners and Supporters Topic Centers Contact Us Pediatric Information A-Z Guide Allergy Care Guide Asthma Care Guide Diabetes Care Guide Discussion Boards DrGreene´s Chats DrGreene´s Event Schedule FAQ Fast Facts Feature Articles Guidelines Pediatric Updates Special Feature Top Tips Community Activty Guide Advanced Search Community Central Chat Chat Schedule Cute Faces Discussion Boards Family Friendly Recipes Parent-to-Parent Resources The DrGreene Team Newsletter Prenatal Newborn Infants Toddlers Pre-Schoolers School Age Teens / Adolescents Multimedia Library Fertility Children's Health Are there any new, effective treatments for propionic acidemia? In people with propionic acidemia, there is an insufficient supply of one of these enzymes (propionyl coenzyme A [CoA] carboxylase). Without the propionyl CoA carboxylase, there is a bottleneck in protein processing. Propionic acid builds up in the blood. This is known to damage the lining of small blood vessels, allowing the propionic acid to leak into the brain and nerve tissues, where it alters behavior and development. Ammonia also accumulates in the blood. This too can damage the brain. Food that is meant to nourish becomes a poison.
Acidemia, Propionic 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 http://www.peacehealth.org/kbase/nord/nord500.htm
Extractions: It is possible that the main title of the report Acidemia, Propionic 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. 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.
