Extractions: Pediatric Database (PEDBASE) Discipline: MET Last Updated: 12/23/94 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. risk factors: M = F the gene for each subunit is located on different chromosomes: 13 (alpha) and 3q (beta) functions in the catabolic pathway for the odd-chain fatty acids threonine, methionine, isoleucine and valine Propionic Acidemia can arise from mutations in either the alpha or beta subunit formally a collection of disorders characterized by the accumulation of glycine in the plasma and urine now known as a heterogeneous group of disorders arising from various enzyme deficiencies, i.e., propionic acidemia,methylmalonic acidemia, isovaleric acidemia, and beta-ketothiolase deficiency
Extractions: document.write(''); (advertisement) Home Specialties CME PDA ... Patient Education Articles Images CME Patient Education Advanced Search Link to this site Back to: eMedicine Specialties Neurology Neuro-vascular Diseases Last Updated: August 2, 2001 Rate this Article Email to a Colleague AUTHOR INFORMATION Section 1 of 10 Author Information Introduction Clinical Differentials ... Bibliography Author: Pitchaiah Mandava, MD, PhD , Assistant Professor, Department of Neurology, University of Texas Medical Branch at Galveston Coauthor(s): Thomas A Kent, MD , Director of Cerebrovascular Research, Professor, Department of Neurology, University of Texas Medical Branch at Galveston 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 , Director of Stroke Center, Associate Professor, Department of Neurology, University of South Alabama; Francisco Talavera, PharmD, PhD , Senior Pharmacy Editor, Pharmacy, eMedicine;
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 DrGreene.com Topic Centers Mission Reviews Awards Readers Comments Press Room Partners and Supporters Contact Us Pediatric Information A-Z Guide Allergy Care Guide Asthma Care Guide Diabetes Care Guide DrGreene´s Chats FAQ Fast Facts Feature Articles Guidelines Pediatric Updates Special Feature Top Tips Community Activty Guide Advanced Search Community Central Chat Chat Schedule Cute Faces Family Friendly Recipes Parent-to-Parent Resources The DrGreene Team Newsletter Prenatal Newborn Infants Toddlers Pre-Schoolers School Age Teens / Adolescents Multimedia Library Children's Health Fertility 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.
Home Page The propionic acidemia Foundation provides funding for academic researchleading to a cure for PA. WHAT IS propionic acidemia? Propionic http://www.pafoundation.com/
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.
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 DrGreene.com Topic Centers Mission Reviews Awards Readers Comments Press Room Partners and Supporters Contact Us Pediatric Information A-Z Guide Allergy Care Guide Asthma Care Guide Diabetes Care Guide DrGreene´s Chats FAQ Fast Facts Feature Articles Guidelines Pediatric Updates Special Feature Top Tips Community Activty Guide Advanced Search Community Central Chat Chat Schedule Cute Faces Family Friendly Recipes Parent-to-Parent Resources The DrGreene Team Newsletter Prenatal Newborn Infants Toddlers Pre-Schoolers School Age Teens / Adolescents Multimedia Library Children's Health Fertility 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?
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 propionyl coenzyme A (CoA) carboxylase. These authors http://www.emedicine.com/ped/byname/propionic-acidemia-%28propionyl-coa-carboxyl
Extractions: (advertisement) Synonyms, Key Words, and Related Terms: ketotic hyperglycinemia, propionyl coenzyme A carboxylase deficiency, propionate carboxylation defect, multiple carboxylase deficiency Background: In 1961, Childs et al published the earliest clinical report of a patient who ultimately was found to be affected by a deficiency of propionyl coenzyme A (CoA) carboxylase. These authors noted a series of severe ketoacidotic episodes in the child that were precipitated by protein ingestion and specifically methionine and threonine administration but manifested by marked elevations in plasma and urinary glycine. From these observations, the disease gained the name ketotic hyperglycinemia, a phenomenological term that inadvertently drew investigators' efforts toward a defect in glycine metabolism and delayed elucidation of the biochemical basis. The clinical hallmark of the disease is severe ketoacidosis of an episodic nature. In 1969, Hsia et al described the underlying defect in propionate carboxylation in ketotic hyperglycinemia. Simultaneously, Morrow et al described the concurrence of methylmalonic acidemia and ketotic hyperglycinemia, so that what originally had been considered a single disorder became recognized on clinical grounds as at least 2 different diseases. The subsequent studies in 1971 by Hsia et al of the original patient's sister, which demonstrated a specific defect in propionyl CoA carboxylase, also delineated propionic acidemia from methylmalonic acidemia as a distinct biochemical disorder. Subsequent work led to further delineation of another disorder, initially called multiple carboxylase deficiency, which includes deficiency of propionyl CoA carboxylase activity in addition to defects in other carboxylases, as well.
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: February 25, 2002 Rate this Article Email to a Colleague Synonyms and related keywords: ketotic hyperglycinemia, propionyl coenzyme A carboxylase deficiency, propionate carboxylation defect, multiple 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 ... Sigma Xi , Society for Pediatric Research, and Southern Society for Pediatric Research Editor(s): Erawati Bawle, MD, FAAP, FACMG
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 and deliver healthy babies! mine recently had a baby who was diagnosed with propionic acidemia. Apparently this means that the baby cannot digest http://www.drgreene.com/000410.asp
HYPOGLYCEMIA Definition, and diagnosis.Category Health Conditions and Diseases Pancreas Hypoglycemia 4. Organic Acidemias. EthylmalonicAdipic Aciduria; Glutaric Acidemia Type II;Methylmalonic Acidemia; propionic acidemia; 3-OH,3-Methylglutaric Acidemia. http://www.icondata.com/health/pedbase/files/HYPOGLYC.HTM
Google Directory - Health > Conditions And Diseases > Genetic Disorders > Propio Search only in propionic acidemia Search the Web eMedicine http//www.emedicine.com/NEURO/topic577. htm An in depth look at propionic acidemia. Pediatric Database - http// www. com/ health/ pedbase/ files/ PROPIONI. http://directory.google.ch/Top/Health/Conditions_and_Diseases/Genetic_Disorders/
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
Extractions: Search through: Entire site Propionic Acidemia DIRECTORY Health/Fitness Diseases Genetic Disorders ... NORD - Acidemia, Propionic - Includes the synonyms, a general discussion and further resources. Pediatric Database - Offers a definition of propionic acidemia as well as the epidemiology, pathogenesis, clinical features, investigations and management. eMedicine - An in depth look at Propionic acidemia.
Research On Newborn Screening And Detectable Disorders MCAD Costeffectiveness study for screening by Children's Hospital of Philadelphia.propionic acidemia Outcome Study by University of California. http://www.savebabies.org/research.htm
Propionic Acidemia HOME propionic acidemia. Proprionic Acidemia; Coincidence of PKUand propionic acidemia in an Amish girl; propionic acidemia; Three http://www.bdid.com/propacid.htm
Extractions: needs and parents with special needs children. 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. Clinical symptoms of propionic acidemia include metabolic acidosis, hyperammonemia, vomiting, failure-to-thrive, lethargy, respiratory distress, and coma. Untreated, a child may suffer from irreversible brain damage and death. Symptoms may be prevented and the disorder may be managed by diet.
ORPHANET® : Propionic Acidemia Translate this page ORPHANET. ORPHANET database access. propionic acidemia. Direct access todetails Alias Glycinemia,Propionyl-CoA carboxylase deficiency. Home Page. http://www.orpha.net/static/GB/propionic_acidemia.html
NH4 (micromol/L) 50 (n=60) 50-99 (n=100) 99 (n=81) Mean (Range 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
