1. EMedicine - Metabolic Disease & Stroke: Propionic Acidemia : Article By Pitchaia Metabolic Disease Stroke propionic acidemia propionic acidemia is a metabolic disorder in which a defective enzyme, propionyl-coenzyme A (CoA) http://www.emedicine.com/NEURO/topic577.htm

(advertisement) Home Specialties Resource Centers CME ... Patient Education Articles Images CME Advanced Search Consumer Health Link to this site Back to: eMedicine Specialties Neurology Neuro-vascular Diseases Last Updated: April 8, 2005 Rate this Article Email to a Colleague Synonyms and related keywords: propionic acidemia, propionyl-coenzyme A, CoA, carboxylase, bilateral basal ganglia infarcts, caudate infarct, putaminal infarct, globus pallidus infarct, PCCA, PCCB 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, Michael E DeBakey VA Medical Center Stroke Program Coauthor(s): Thomas A Kent, MD , Chief of Neurology, Houston Veteran Affairs Medical Center; Professor, Department of Neurology, Baylor College of Medicine, Michael E DeBakey VA Medical Center Stroke Program Pitchaiah Mandava, MD, PhD, is a member of the following medical societies: American Academy of Neurology , and American Heart Association Editor(s): Richard M Zweifler, MD

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

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3. 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 http://www.emedicine.com/PED/topic1906.htm

(advertisement) Home Specialties Resource Centers CME ... Patient Education Articles Images CME Advanced Search Consumer Health Link to this site Back to: eMedicine Specialties Pediatrics Genetics And Metabolic Disease Propionic Acidemia (Propionyl CoA Carboxylase Deficiency) 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

4. Propionic Acidemia propionic acidemia (PA) An Organic Acid Disorder. Save Babies Through Screening Foundation is comprised of volunteers. http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126

5. Inborn Errors Of Metabolism Organic Acidemia Association Protocol for Isovaleric Acidemia. propionic acidemia Research Foundation. Protocol for propionic acidemia. MMA Research Fund Website http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126

6. Propionic Acidemia - Genetics Home Reference Where can I find additional information about propionic acidemia? propionic acidemia is an inherited disorder in which the body is unable to process http://ghr.nlm.nih.gov/condition=propionicacidemia

Home What's New Browse Handbook ... Search Propionic acidemia Related Gene(s) Quick links to this topic MedlinePlus Health Information Educational resources Information pages Patient support For patients and families Gene Reviews Clinical summary Gene Tests DNA test labs PubMed Recent literature OMIM Genetic disorder catalog References Propionic acidemia On this page: What is propionic acidemia? How common is propionic acidemia? ... help with understanding propionic acidemia? What is 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. How common is propionic acidemia? Propionic acidemia occurs in about 1 in 100,000 live births in the United States. The condition appears to be more common in several populations worldwide, including the Inuit population of Greenland and Saudi Arabians. What genes are related to propionic acidemia?

7. Welcome To The Propionic Acidemia Foundation The PAF is an organization that funds academic and medical research leading to better treatments and a cure of propionic acidemia, an inborn error of metabolism. http://pafoundation.com

HOME RESEARCH FAMILY STORIES FAQ ... CHAT Thank you to the Chertow Family for donating $2,300.00 for PA Research in Memory of Rose Chertow About the PA Foundation The Propionic Acidemia Foundation (PAF) was created to monetarily assist academic researchers engaged in studies to find better treatments and ultimately a cure for propionic acidemia (PA), an inborn error of metabolism. Formed in 2001, the PAF was chartered by several Propionic Acidemia families who originated the idea of funding PA research programs that have the potential of discovering a cure for Propionic Acidemia. 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 501(c)3 non-profit organization and is registered in the state of Illinois. Click here for financial information By assisting researchers with an alternate funding source, the PAF is dedicated to accelerating scientific knowledge of PA, a metabolic disorder affecting thousands of individuals worldwide. The birth rate for PA in the US is estimated at 1/50,000. In other countries the rate is much higher. Saudi Arabia's PA birth rate, for example, is estimated at 1/5000. As we gain more knowledge of SIDS (sudden infant death syndrome) it is becoming clearer that a number of these deaths are probably due to undiagnosed metabolic disorders of which propionic acidemia is but one.

8. Propionic Acidemia propionic acidemia. Proprionic Acidemia. Coincidence of PKU and propionic acidemia in an Amish girl. propionic acidemia http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126

9. Propionic Acidemia - References - Genetics Home Reference propionic acidemia a neuropathology case report and review of prior cases. Arch Pathol Lab Med. 2003 Aug; 127(8) e3258. Review. PubMed citation This link http://ghr.nlm.nih.gov/condition=propionicacidemia/show/References

Home What's New Browse Handbook ... Search Propionic acidemia Back to condition summary Propionic acidemia References These sources were used to develop the Genetics Home Reference condition summary on propionic acidemia. Desviat LR, Perez B, Perez-Cerda C, Rodriguez-Pombo P, Clavero S, Ugarte M. Propionic acidemia: mutation update and functional and structural effects of the variant alleles. Mol Genet Metab. 2004 Sep-Oct;83(1-2):28-37. Review. PubMed citation Feliz B, Witt DR, Harris BT. Propionic acidemia: a neuropathology case report and review of prior cases. Arch Pathol Lab Med. 2003 Aug; 127(8): e325-8. Review. PubMed citation ... NLM Catalog Last Comprehensive Review: April 2005 Published: September 6, 2005 Contact NLM Customer Service Lister Hill National Center for Biomedical Communications ... Selection Criteria for Web Links Indicates a page outside Genetics Home Reference.

10. Propionic Acidemia - DrGreene.com - Caring For The Next Generation Pediatric expert Dr. Alan Greene talks about propionic acidemia. http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126

11. Propionic Acidemia propionic acidemia (PA) An Organic Acid Disorder OMIM propionic acidemia. Support Groups Organic Acidemia Association 13210 35th Avenue http://www.savebabies.org/diseasedescriptions/pa.php

Search Our Site! Propionic Acidemia (PA) An Organic Acid Disorder Save Babies Through Screening Foundation is comprised of volunteers. Some have children who were helped by newborn screening, and some have children who have died, or suffered brain damage. For many of the Foundation's volunteers, joy comes from knowing that your child was saved. Many hours of hard work have been done to help children, maybe even yours. Please let us hear from you. What is it? This disorder frequently results in catastrophic illness beginning in the newborn period. Inheritance and Frequency The gene defect for PA is an autosomal recessive genetic trait and is unknowingly passed down from generation to generation. This faulty gene only emerges when two carriers have children together and pass it to their offspring. For each pregnancy of two such carriers, there is a 25% chance that the child will be born with the disease and a 50% chance the child will be a carrier for the gene defect. PA occurs in approximately 1 in 100,000 live births in the United States. Symptoms of PA can include protein intolerance, vomiting, failure to thrive, lethargy, and profound metabolic acidosis.

12. Acidemia, Propionic propionic acidemia is a rare metabolic disorder characterized by deficiency of propionyl CoA carboxylase, an enzyme involved in the breakdown http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126

13. Jordan - Propionic Acidemia I had propionic acidemia, an inborn error of metabolism. My parents ran straight to the nearest computer to surf the net. Luckily, they found OAA (Organic http://www.savebabies.org/familystories/JordanPA.php

Search Our Site! Jordan 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.

14. Welcome To The Propionic Acidemia Foundation The PAF is an organization that funds academic and medical research leading to better treatments and a cure of propionic acidemia, an inborn error of http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126

15. EMedicine - Metabolic Disease Stroke Propionic Acidemia An in depth look at propionic acidemia. http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126

16. Propionic Acidemia Treatment - DrGreene.com - Caring For The Next Generation Last year, a gene therapy trial began for people with ornithine transcarbamylase deficiency (OTC), a closely related inborn error of metabolism. http://www.drgreene.com/21_900.html

QUICK SEARCH A - Z Guide ADHD Allergy Care Guide Allergies Asthma Care Guide Asthma Bedwetting Breastfeeding Childhood Obesity Diabetes Care Guide Ear Infections Environmental Health Genetics Infectious Diseases Medical Treatment Mental Health Multimedia Library Potty Training Rashes Safety Sleep About DrGreene.com Archives About Us Context Reviews Awards Readers Comments Press Room Partners and Supporters Children's Health Topic Centers Contact Us Professional Resources Dr. Greene's Welcome Analytical Chemistry Business: Healthcare Cardiology Clinical Pharmacology Clinical Trials Mgmt Cosmetic Surgery Dermatology Diabetes Drug Discovery Emergency Medicine Endocrinology Family Practice Gastroenterology Geriatrics HIV/AIDS Infectious Disease Internal Medicine Managed Care Neurology Nursing Ob/Gyn Oncology Ophthalmology Orthopedics Pediatrics Pharma Marketing Pharma Sales Pharma Science/Tech Pharmacy Psychiatry Pulmonology Radiology Residents / Students Rheumatology Surgery Urology Pediatric Information A-Z Guide Allergy Care Guide Asthma Care Guide Diabetes Care Guide Discussion Boards Dr. Greene´s Chats

17. Propionic Acidemia Foundation The propionic acidemia Foundation provides funding for academic research leading to a cure for PA. http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126

18. Welcome To The Propionic Acidemia Foundation The propionic acidemia Foundation (PAF) was created to monetarily assist academic propionic acidemia is a genetic disorder of branchedchain amino acid http://www.pafoundation.com/

HOME RESEARCH FAMILY STORIES FAQ ... CHAT Thank you to the Chertow Family for donating $2,300.00 for PA Research in Memory of Rose Chertow About the PA Foundation The Propionic Acidemia Foundation (PAF) was created to monetarily assist academic researchers engaged in studies to find better treatments and ultimately a cure for propionic acidemia (PA), an inborn error of metabolism. Formed in 2001, the PAF was chartered by several Propionic Acidemia families who originated the idea of funding PA research programs that have the potential of discovering a cure for Propionic Acidemia. 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 501(c)3 non-profit organization and is registered in the state of Illinois. Click here for financial information By assisting researchers with an alternate funding source, the PAF is dedicated to accelerating scientific knowledge of PA, a metabolic disorder affecting thousands of individuals worldwide. The birth rate for PA in the US is estimated at 1/50,000. In other countries the rate is much higher. Saudi Arabia's PA birth rate, for example, is estimated at 1/5000. As we gain more knowledge of SIDS (sudden infant death syndrome) it is becoming clearer that a number of these deaths are probably due to undiagnosed metabolic disorders of which propionic acidemia is but one.

19. Propionic Acidemia - Genetics Home Reference What is propionic acidemia? propionic acidemia is an inherited disorder in which the body is unable to process certain proteins and lipids (fats http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126

20. FAQ - Propionic Acidemia Foundation Early detection and treatment of propionic acidemia can potentially If your state does not screen for propionic acidemia, you can have your child tested http://www.pafoundation.com/faq.htm

HOME RESEARCH FAMILY STORIES FAQ ... CHAT FAQ What are the symptoms of PA? Symptoms will present themselves within days of birth (acute onset) or later in childhood (late onset) depending on the severity of the disorder. Symptoms may include: refusal to eat, poor sucking ability, vomiting, dehydration, lethargy (excessively tired or sluggish), acidosis (excess acid in the blood), and hyperammonemia (excess ammonia in the blood) If not treated, mental impairment, coma and death can follow. How is PA diagnosed? Some states provide comprehensive newborn screening (CNBS) for Propionic Acidemia. Potential late onset cases can be identified using this type of testing. Such cases are verified through additional blood and urine tests. Diagnosis of acute onset cases is typically made in the intensive care unit when newborns go into a metabolic crisis within the first few days of life. What is comprehensive newborn screening?

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