21. FAQ - Propionic Acidemia Foundation with Ketoacidosis and Lactic Acidosis, Propionic Type;. Ketotic Glycinemia;pcc deficiency; Propionyl CoA Carboxylase Deficiency or Propionic Aciduria. 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?

22. OMIM Entry 232000 (1989) successfully diagnosed pcc deficiency in the first trimester of pregnancy In 1 complementation type of pcc deficiency, heterozygotes have partial http://www.hgmp.mrc.ac.uk/cgi-bin/wrapomim?232000

23. Propionic Acidemia - Descipher Health ketotic glycinemia, propionylCoA carboxylase deficiency, pcc deficiency, ketotichyperglycinemia. edit. Cause. edit. Population Distribution. edit http://www.descipher.com/health/info/Propionyl-CoA_carboxylase_deficiency

Do you have lab results? Propionic acidemia From Descipher Health (Redirected from Propionyl-CoA carboxylase deficiency Description: Table of contents showTocToggle("show","hide") 1 Synonyms 2 Cause 3 Population Distribution 4 Effects ... edit Synonyms ketotic glycinemia, propionyl-CoA carboxylase deficiency, PCC deficiency, ketotic hyperglycinemia edit Cause edit Population Distribution edit Effects edit Symptoms edit Signs edit Diagnostic Tests edit Differential Diagnosis edit Treatment edit Expected Outcome edit Prevention edit Medical References edit External Links Retrieved from " http://www.descipher.com/health/info/Propionic_acidemia Views Article Discussion Edit History Personal tools Create an account or log in Check Lab Results Diseases Labs ... Terms of Service This work is licensed under a Creative Commons License . Please email webmaster@descipher.com with any comments you may have.

24. Expanded Newborn Screening Using Tandem Mass Spectromety PA is sometimes also called. PropionylCoA carboxylase deficiency; pcc deficiency;Ketotic glycinemia; Ketotic hyperglycinemia http://www.newbornscreening.info/Parents/organicaciddisorders/PA.html

Home About Us Disorders Glossary ... FAQs For Parents...................... General Information Genetics Overview Disorder Factsheets How to Obtain Screening For Professionals............ General Information Genetics Overview Disorder Factsheets Genetic Fact Sheets for Parents Organic Acid Oxidation Disorders Disorder name: Propionic Acidemia Acronym: PA What is PA? What causes PA? If PA is not treated, what problems occur? What is the treatment for PA? ... Where can I find more information? This fact sheet has general information about PA. Every child is different and some of these facts may not apply to your child specifically. Certain treatments may be recommended for some children but not others. All children with PA should be followed by a metabolic doctor in addition to their primary care provider. What is PA? PA stands for "propionic acidemia". It is one type of organic acid disorder . People with PA have problems breaking down and using certain amino acids from the food they eat. Organic Acid Disorders: Organic acid disorders (OAs) are a group of rare inherited conditions. They are caused by

25. Expanded Newborn Screening Using Tandem Mass Spectromety Alternate name(s), PropionylCoA carboxylase deficiency, pcc deficiency, Ketotichyperglycinemia. Acronym, PA. Disease Classification, Organic Acid Disorder http://www.newbornscreening.info/Pro/organicaciddisorders/PA.html

Home About Us Disorders Glossary ... FAQs For Parents...................... General Information Genetics Overview Disorder Factsheets How to Obtain Screening For Professionals............ General Information Genetics Overview Disorder Factsheets Disorder Factsheet for Professionals Organic Acid Disorders Disease Name Propionic acidemia Alternate name(s) Propionyl-CoA carboxylase deficiency, PCC deficiency, Ketotic hyperglycinemia Acronym PA Disease Classification Organic Acid Disorder Variants Yes Variant name Symptom onset Neonatal Symptoms Episodic crises leading to neurologic damage, coma and death. Natural history without treatment Metabolic crises may lead to neurologic damage including mental retardation, movement disorders, seizures. coma and sudden death are also possible. Natural history with treatment If treatment instituted before metabolic crisis, normal IQ and development may be seen. Treatment may improve some symptoms of affected individuals. Treatment Protein restricted diet with supplementary medical formula

26. DBGET Result: OMIM 606054 (1989) successfully diagnosed pcc deficiency in the first trimester of pregnancyby direct enzyme assay in uncultured chorionic villi. Muro et al. http://www.genome.jp/dbget-bin/www_bget?omim 606054

27. Definitions Of Genetic Disorders -P PC Deficiency Group B pcd.htm PC, Eulenburg Disease pc.htm pcc deficiencypropacid.htm PCH pch.htm PCLD pld.htm PCT ctp.htm PD parkinson.htm http://www.icomm.ca/geneinfo/def-p.htm

28. Rare Diseases Terms - Office Of Rare Diseases Synonyms, Propionylcoa carboxylase deficiency. pcc deficiency. Glycinemia,ketotic. Hyperglycinemia with ketoacidosis and leukopenia http://ord.aspensys.com/asp/diseases/diseaseinfo.asp?ID=467

29. Stoornissen Betreffende De Stofwisseling Van Organische Zuren Synoniemen PropionylCoA-Carboxylase Deficiency; pcc deficiency; KetoticGlycinemia; Hyperglycinemia with Ketoacidosis and Leukopenia; http://www.homepages.hetnet.nl/~b1beukema/ziekorganische.html

Stoornissen betreffende de stofwisseling van organische zuren Alkaptonurie Alkaptonuria Alkaptonuria Synoniemen: AKU; Homogentisic acid oxidase deficiency; H omogentisaat-1,2-dioxigenase deficiëntie OMIM: OMIM: Clinical Synopsis e-Medicine: Alkaptonuria ExPASy: Homogentisate 1,2-dioxygenase; EC 1.13.11.5 Synoniemen voor dit enzym: Homogentisicase, Homogentisate oxygenase, Homogentisic acid oxidase Homogentisate + O L-2- Hydroxyglutaricacidemia L-2- -Hydroxyglutaricacidemia OMIM: OMIM: Clinical Synopsis D-2- Hydroxyglutaricaciduria D-2- -Hydroxyglutaricaciduria OMIM: OMIM: Clinical Synopsis Vertakte-keten organo-acidurieën: Stoornissen betreffende de afbraak van Leucine: Isovaleric acidemia; IVA ( Isovaleriaan acidurie IVA ) Synoniemen: Isovaleric acid-CoA Dehydrogenase Deficiency; IVD Deficiency OMIM: OMIM: clinical synopsis ExPASy: Isovaleryl-CoA dehydrogenase; EC 1.3.99.10 Isolated deficiency of 3-Methyl crotonyl CoA Carboxylase a- Methyl crotonyl CoA Carboxylase 1 deficiency ) Synoniemen: 3-a-methylcrotonylglycinuria I OMIM: OMIM: clinical synopsis Extra informatie: Methylcrotonyl-CoA carboxylase ExPASy: Methylcrotonyl-CoA carboxylase EC 6.4.1.4

30. NORD - National Organization For Rare Disorders, Inc. Ketotic Glycinemia; pcc deficiency; Propionyl CoA Carboxylase Deficiency Propionic Acidemia, Type I (PCCA Deficiency); Propionic Acidemia, http://www.rarediseases.org/search/rdbdetail_abstract.html?disname=Acidemia, Pro

31. Cathy (pcc deficiency in History) Special sections paired with Biology 102 or Sociology202 203 require permission for registration. http://www.louisville.edu/~cwleis01/

Cathy Leist, Coordinator (502-852-8105) E-mail: cwleis01@athena.louisville.edu Courses Offered TS 101 Read 095 * College Study Strategies Read 090 College Reading Read 090L Additional Lab Hour Recommended TS 098 Introduction to Social Science PCC Deficiency in History) permission for registration. Student Success Workshops: Miller Hall First-Year Resource Center Workshop Schedule Strategic Learning Lab: Strickler Hall 329 Drop assistance for students interested in learning styles, critical reading, lecture note-taking, and test-taking. Wednesday 12:00-2:00 Thursday 12:30-2:30

32. List Of Genetic Disorders: Information From Answers.com PBGD deficiency see acute intermittent porphyria. pcc deficiency see propionicacidemia PCT see porphyria cutanea tarda http://www.answers.com/topic/list-of-genetic-disorders

showHide_TellMeAbout2('false'); Business Entertainment Games Health ... More... On this page: Wikipedia Mentioned In Or search: - The Web - Images - News - Blogs - Shopping list of genetic disorders Wikipedia list of genetic disorders The following is a list of genetic disorders and their origins. Beside most disorders is a code that indicates the type of mutation and the chromosome involved. Common Disorders Disorder Mutation Chromosome Angelman syndrome DCP Canavan disease Charcot-Marie-Tooth disease color blindness P X Cystic fibrosis P Down syndrome C haemophilia P X Joubert syndrome Klinefelter syndrome C X Neurofibromatosis Pelizaeus-Merzbacher disease phenylketonuria P Prader-Willi syndrome DC Spina bifida P Tay-Sachs disease P Turner syndrome C X Legend: P - Point mutation , or any insertion/deletion entirely inside one gene D - Deletion of a gene or genes C - Whole chromosome extra, missing, or both Full list Contents: Top A B C ... Z Disorder Mutation Chromosome 21-hydroxylase deficiency 45,X see Turner syndrome [[47,XX,+21]] see Down syndrome 47,XXX see triple X syndrome 47,XXY

33. RedNova News - Health - Propionic Acidemia Revisited: A Workshop Report Isolated pcc deficiency can result from mutations in the PCCA gene or the PCCBgene, coding for the alpha and beta subunit, respectively, and corresponding http://www.rednova.com/news/health/111994/propionic_acidemia_revisited_a_worksho

ANDP("ntn"); Ads_kid=0;Ads_bid=0;Ads_xl=0;Ads_yl=0;Ads_xp='';Ads_yp='';Ads_xp1='';Ads_yp1='';Ads_opt=0;Ads_wrd='[KeyWord]';Ads_prf='';Ads_par='';Ads_cnturl='';Ads_sec=0;Ads_channels=''; Home News Video Images ... Site Map SPECIAL NEWS Return to Flight REDNOVA NEWS Space Science Technology Health ... Video News REDNOVA EXTRAS RedNova E-Mail My RedNova Join RedNova RSS Feeds ... Tell A Friend, Win $500 Ads by Google Posted on: Friday, 17 December 2004, 03:00 CST E-mail this to a friend Printable version Discuss this story in the forum Change Font Size: A A A Propionic Acidemia Revisited: A Workshop Report Summary: Propionic acidemia (PA) is one of the most frequent organic acidurias, but information on the outcome of individuals with PA is rather limited. We present data of 49 patients with PA, which were gathered from 18 metabolic centers throughout Central Europe on the occasion of an international workshop. All patients were identified by selective metabolic screening, and 86% of them were classified as having early-onset PA owing to their presentation with clinical symptoms within the first 90 days of life. Mortality rate was one third, and details of symptoms and treatment of the surviving patients are discussed. The great variation of phenotypic expression of the disease and different therapeutic strategies (especially in regard to the degree of protein restriction) used at the various institutions involved in this study imply the need for a registry of PA patients and for a multicenter prospective treatment study. Clin Pediatr. 2004;43:837-843

34. Food, Nutrition, And Metabolism - Genetics Home Reference ACADM deficiency see mediumchain acyl-coenzyme A dehydrogenase PBGD deficiencysee acute intermittent porphyria; pcc deficiency see propionic acidemia http://ghr.nlm.nih.gov/ghr/conditionsByCategory/show/foodnutritionandmetabolism

Home What's New Browse Handbook ... Search Browse Browse Conditions By Name By Category Browse Genes By Symbol By Full Name By Category Browse Chromosomes Food, nutrition, and metabolism Metabolism is the total of all chemical changes that take place in a cell or an organism. These changes produce energy and basic materials needed for important life processes. Some disorders of metabolism have a strong genetic component. AB variant see GM2-gangliosidosis, AB variant ACADM deficiency see medium-chain acyl-coenzyme A dehydrogenase deficiency ACADVL see very long-chain acyl-coenzyme A dehydrogenase deficiency Activator-deficient Tay-Sachs disease see GM2-gangliosidosis, AB variant Acute cerebral Gaucher's disease see Gaucher disease, type 2 acute intermittent porphyria ACY2 deficiency see Canavan disease acyl-CoA dehydrogenase very long chain deficiency see very long-chain acyl-coenzyme A dehydrogenase deficiency ADP see ALAD deficiency porphyria AIP see acute intermittent porphyria AKU see alkaptonuria 5-ALA dehydratase-deficient porphyria see ALAD deficiency porphyria ALA-D porphyria see ALAD deficiency porphyria ALA dehydratase porphyria see ALAD deficiency porphyria ALAD deficiency porphyria Alcaptonuria see alkaptonuria alkaptonuria Alkaptonuric ochronosis see alkaptonuria 2-alpha-methyl-3-hydroxybutyricacidemia see beta-ketothiolase deficiency 3-alpha-ketothiolase deficiency see beta-ketothiolase deficiency 3-alpha-ktd deficiency see beta-ketothiolase deficiency 3-alpha-oxothiolase deficiency see beta-ketothiolase deficiency Alpha-galactosidase A deficiency

35. Propionic Acidemia - Genetics Home Reference with ketoacidosis and leukopenia; ketotic glycinemia; ketotic hyperglycinemia;pcc deficiency; propionicacidemia; propionylCoA carboxylase deficiency 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?

36. HEALTHMEDNET ILLNESS DISEASE URL DIRECTORY pcc deficiency http//directory.ansme.com/health/168.html. pcc deficiencyhttp//my.webmd.com/content/healthwise/30/7398. pcc deficiency (81 sites / 100 http://www.healthmednet.com/PARE-PEP.htm

37. • ACADM deficiency see mediumchain acyl-coenzyme A dehydrogenase deficiency PBGD deficiency see acute intermittent porphyria; pcc deficiency see http://www.urinator.com/testsavailable.htm

A-T see ataxia-telangiectasia AAT see alpha-1 antitrypsin deficiency Absence of vas deferens see congenital bilateral absence of vas deferens Absent vasa see congenital bilateral absence of vas deferens ACADM deficiency see medium-chain acyl-coenzyme A dehydrogenase deficiency ACADVL see very long-chain acyl-coenzyme A dehydrogenase deficiency see achondrogenesis, type 1B see achondrogenesis, type 2 ACH see achondroplasia achondrogenesis, type 1B achondrogenesis, type 2 achondroplasia Acid beta-glucosidase deficiency see Gaucher disease, type 1 Acrocephalosyndactyly (Apert) see Apert syndrome acrocephalosyndactyly, type V see Pfeiffer syndrome Acrocephaly see Apert syndrome Acute cerebral Gaucher's disease see Gaucher disease, type 2 acute intermittent porphyria ACY2 deficiency see Canavan disease acyl-CoA dehydrogenase very long chain deficiency see very long-chain acyl-coenzyme A dehydrogenase deficiency AD see Alzheimer disease Adelaide-type craniosynostosis see Muenke syndrome Adenomatous Polyposis Coli see familial adenomatous polyposis Adenomatous Polyposis of the Colon see familial adenomatous polyposis ADP see ALAD deficiency porphyria Adrenal Gland Disorders see 21-hydroxylase deficiency Adrenogenital Syndrome see 21-hydroxylase deficiency AIP see acute intermittent porphyria AIS see androgen insensitivity syndrome AKU see alkaptonuria 5-ALA dehydratase-deficient porphyria see ALAD deficiency porphyria ALA-D porphyria see ALAD deficiency porphyria ALA dehydratase porphyria see ALAD deficiency porphyria ALAD deficiency porphyria Alagille syndrome Alcaptonuria

38. All Showcase - Health Disease And Health Conditions pcc deficiency (4). Pectus Excavatum (10). Pediculosis (26). Pellagra (3).Pelvic Inflammatory Disease PID (11). Pelvic Pain (11). Pemphigoid (1) http://www.allshowcase.com/Health_and_Fitness/Conditions_and_Diseases/P/

Health Disease and Health Conditions List of health disease and condition information, links and web resources. Discount Shopping Collectibles Coupons Clickbank ... Advertise Search for: All Showcase This Category Calendars Nutritional Supplements Musical Instruments Fiber Optics ... Conditions and Diseases » P Aktiv Search Web News Shopping ... Pyromania Health Diseases and Health Conditions Top Listing to Business Affiliate about business mlm debt loans ... shop Find Amazon products about P Books, magazines, music, softwares, video, DVD... about P Search Amazon.co.uk about P Best Audible Products Digital Audio Entertainment Mach90 Juvio Associate ... Online Shopping Directory Search on P on: Juvio - Solutions for Life AlltheWeb Ask Gigablast ... Yahoo Search for: All Showcase This Category Discount Hotel Resort - Hotels and Beach Resorts Online Reservations Weather structured settlement Debt Consolidation ... Satellite TV www.satellitesolutions.com - get a high definition direct tv satellite system. Cheap Discount Hotels Africa Arctic Asia ... Popular Sites Maintained by: Aktiv Performance Marketing, Inc.

39. Heterozygote Expression In Propionyl Coenzyme A Carboxylase Deficiency We measured propionyl coenzyme A carboxylase (PCC) activity in extracts of skin leukocytes from controls and obligate heterozygotes for pcc deficiency. http://www.pubmedcentral.nih.gov/articlerender.fcgi?artid=371850

40. Health Topics - Quest Diagnostics Patient Health Library Patellofemoral Pain Syndrome Pathergic Granulomatosis Patient Safety Patulous Eustachian Tube. PB. PBC. PC. PC Deficiency pcc deficiency http://www.questdiagnostics.com/kbase/list/ht/p.htm

Health Topics Click a letter to see a list of topics beginning with that letter. A B C D ... P.E.T. PA PA Pacemaker for atrial fibrillation Pacemaker for bradycardia Pacemaker placement ... Palmar-plantar Hyperkeratosis and Concomitant Periodontal Destruction Top Palmoplantar Keratoderma with Periodontosis PAN Pancreatic cancer, exocrine: Treatment - Health Professional Information [Cancer.gov] Pancreatic cancer, exocrine: Treatment - Patient Information [Cancer.gov] ... Paramedian Diencephalic Syndrome Top Paramedian Lower Lip Pits-Popliteal Pyerygium Syndrome Paramyeloidosis Paramyotonia Congenita Paramyotonia Congenita of Von Eulenburg ... Partial Duplication 15q Syndrome Top Partial Duplication 3q Syndrome Partial Facial Palsy With Urinary Abnormalities Partial Gigantism of Hands and Feet, Nevi, Hemihypertrophy, Macrocephaly Partial Monosomy of Long Arm of Chromosome 11 ... Patulous Eustachian Tube PB PBC PC PC Deficiency PCC Deficiency PCH PCLD ... PCT PD PDH Deficiency Top PE Peanut Allergy Pediatric Cardiomyopathy Pediatric Preparation for Medical Tests Pediculosis ... Penile Fibrosis Top Penile implants for erection problems Penile Induration Penta X Syndrome Pentalogy of Cantrell ... PEPCK Deficiency, Mitochondrial

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