1. Pediatric Database enzyme deficiencies, i.e., propionic acidemia methylmalonic acidemia, isovaleric acidemia, and betaketothiolase http://www.icondata.com/health/pedbase/files/PROPIONI.HTM

Pediatric Database (PEDBASE) Discipline: MET Last Updated: 12/23/94 PROPIONIC ACIDEMIA DEFINITION: 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. EPIDEMIOLOGY: incidence: rare age of onset: first weeks of life risk factors: familial - autosomal recessive chrom.#: 13q22-q34 gene: propionyl-CoA-carboxylase (alpha subunit) M = F PATHOGENESIS: 1. Background 1. Propionyl-CoA-Carboxylase (PCCA) a mitochondrial enzyme consisting of 12 subunits (dodecamer) 6 biotin-containing alpha-subunits 6 beta-subunits 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 2. Ketotic Hyperglycinemia 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

2. EMedicine - Metabolic Disease & Stroke: Propionic Acidemia : Article By Pitchaia An in depth look at propionic acidemia. http://www.emedicine.com/NEURO/topic577.htm

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;

3. Propionic Acidemia - DrGreene.com - Caring For The Next Generation propionic acidemia. What is propionic acidemia? propionic acidemiais what we call an inborn error of metabolism. Our bodies use http://www.drgreene.com/21_899.html

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 Propionic Acidemia 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. Propionic acidemia is an error in protein metabolism. Every time we eat food that contains protein, our bodies use a series of enzymes to break those huge foreign protein molecules into small pieces. These then become the building blocks we reassemble to form the specific human proteins we need.

4. 2413 Co-incidence Of PKU And Propionic Acidemia In An Amish Girl. propionic acidemia (PA) was recently diagnosed in an Amish female infant in whom PKU had been diagnosed by routine http://www.faseb.org/genetics/ashg99/f2413.htm

5. 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/

6. 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/

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. WHY CONSTRUCT A MOUSE MODEL? 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.

7. Breastfeeding With A Metabolic Disorder & Propionic Acidemia - DrGreene.com Breastfeeding a child with propionic acidemia is discussed in this question andanswer format. Breastfeeding with a Metabolic Disorder propionic acidemia. http://www.drgreene.com/21_692.html

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? Aubrey Each meal is a matter of life and death for children with propionic acidemia . Children need protein in order to grow and thrive, but for these children extra protein is a deadly poison.

8. 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

(advertisement) Excerpt from Propionic Acidemia (Propionyl CoA Carboxylase Deficiency) Synonyms, Key Words, and Related Terms: ketotic hyperglycinemia, propionyl coenzyme A carboxylase deficiency, propionate carboxylation defect, multiple carboxylase deficiency Please click here to view the full topic text: Propionic Acidemia (Propionyl CoA 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.

9. EMedicine - Propionic Acidemia (Propionyl CoA Carboxylase Deficiency) : Article propionic acidemia (Propionyl CoA Carboxylase Deficiency) In 1961, Childs et alpublished the earliest clinical report of a patient who ultimately was found http://www.emedicine.com/PED/topic1906.htm

(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 Propionic Acidemia (Propionyl CoA Carboxylase Deficiency) 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

10. 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

11. 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

Pediatric Database (PEDBASE) Discipline: APP Last Updated: 6/05/94 HYPOGLYCEMIA DEFINITION: A blood glucose concentration less than 2.2 mmol/L at any age. EPIDEMIOLOGY: incidence: 4.4/1000 live births 2-3/1000 older children age of onset: any risk factors: low birth weight infants (15.6/1000) infants of diabetic mothers DIFFERENTIAL DIAGNOSIS: 1. Metabolic Disorders 1. Carbohydrate Metabolism 1. Glycogen Storage Disease Ia - von Gierke Disease III - Forbes Disease VI - Hers Disease IX 2. Gluconeogenesis Galactosemia I + III Hereditary Fructose Intolerance Fructose-1,6-Diphosphatase Deficiency Pyruvate Carboxylase Deficiency Phosphoenolpyruvate Carboxykinase (PEPCK) Deficiency 2. Lipid Metabolism MCAD, LCAD, SCAD Carnitine Palmitoyl Transferase Deficiency 3. Amino Acid Metabolism Maple Syrup Urine Disease (MSUD) Tyrosinemia-I 4. Organic Acidemias Ethylmalonic-Adipic Aciduria Glutaric Acidemia Type II Methylmalonic Acidemia Propionic Acidemia 3-OH,3-Methylglutaric Acidemia 2. Endocrine Disorders Hypopituitarism Adrenal Insufficiency Growth Hormone Deficiency Hyperthryroidism (Ketotic Hypoglycemia) Hyperinsulinemia Adenomas, Insulinomas

12. 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/

Directory Help Search only in Propionic Acidemia Search the Web Propionic Acidemia Health Conditions and Diseases Genetic Disorders Go to Directory Home Related Category: Web Pages Viewing in Google PageRank order View in alphabetical order 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. NORD - Acidemia, Propionic Includes the synonyms, a general discussion and further resources. Help build the largest human-edited directory on the web. Submit a Site Open Directory Project Become an Editor Advertise with Us

13. 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

HOME Newborn Screening Information Find out what your state screens for, answers to frequently asked questions, and much more. Disease Descriptions Read a short description of each of the over 55 disease currently detectable through newborn screening. Family Stories Meet the families behind the statistics Promoting Screening Tips for promoting screening awareness. Awareness Projects Learn about the numerous grass-roots projects to help raise the awareness of newborn screening. Resource Library Locate numerous newborn screening related medical articles, awareness materials, research participation forms, and much more. Event Calendar Find a listing on Newborn screening related events. Fundraising Activities Help raise much needed funds by hosting or participating in a fundraising event. Other Sites of Interest Find a listing of other newborn screening related websites. SEARCH OUR SITE Propionic Acidemia (PA) An Organic Acid Disorder What is it?

14. DIRECTORY.TERADEX.COM - Health/Fitness/Diseases/Genetic Disorders/Propionic Acid little girl's life with the genetic disease propionic acidemia. NORD Acidemia, Propionic - Includes the synonyms, a http://directory.teradex.com/Health_Fitness/Diseases/Genetic_Disorders/Propionic

preloadImages('as_free_x-mail_s','as_anonymous','as_ad-space'); Add your Web Site Add Search to your Site Search for: 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. Submit Premium Listing! $10 for two years Sign Up User Name: Password: Edit in Real Time, Banner Placement Help build the largest human-edited directory on the web. Submit a Site Open Directory Project Become an Editor This site is presented in modified Open Directory form E-Mail: webmaster@teradex.com Aaex Corp.

15. 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

HOME Newborn Screening Information Find out what your state screens for, answers to frequently asked questions, and much more. Disease Descriptions Read a short description of each of the over 55 disease currently detectable through newborn screening. Family Stories Meet the families behind the statistics Promoting Screening Tips for promoting screening awareness. Awareness Projects Learn about the numerous grass-roots projects to help raise the awareness of newborn screening. Resource Library Locate numerous newborn screening related medical articles, awareness materials, research participation forms, and much more. Event Calendar Find a listing on Newborn screening related events. Fundraising Activities Help raise much needed funds by hosting or participating in a fundraising event. Other Sites of Interest Find a listing of other newborn screening related websites. SEARCH OUR SITE Research Information Research Studies Affected individuals and their families are constantly needed to participate in research studies. Please consider participating.

16. 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

HOME Propionic Acidemia Proprionic Acidemia Co-incidence of PKU and propionic acidemia in an Amish girl Propionic Acidemia Three novel splice mutations in the PCCA gene causing identical exon skipping in propionic acidemia patients ... HOME

17. EPEC - Educating Parents Of Extra-special Children - Propionic Acidemia propionic acidemia. propionic acidemia is findings. propionic acidemiais inherited as an autosomal recessive trait. Clinical symptoms http://www.epeconline.com/PropionicAcidemia.html

Educating Parents of Extra-special Children (EPEC) A resource of information for adults with special needs and parents with special needs children. Propionic Acidemia 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.

18. 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

ORPHANET database access Propionic acidemia Direct access to details Alias : Home Page

19. Error Page DISEASE propionic acidemia, Synonym(s) Glycinemia, ketotic PropionylCoAcarboxylase deficiency, CIM E72.8, Propionicacidemia is http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=35

20. 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

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