1. Acidemia, Propionic pcc deficiency; Propionyl CoA Carboxylase Deficiency; Ketotic Glycinemia;Hyperglycinemia with Ketoacidosis and Lactic Acidosis, Propionic Type http://my.webmd.com/hw/health_guide_atoz/nord500.asp

var guid_source = ""; var guid_source_id = ""; //unused var encodedurl = ""; WebMD Today Home WebMD News Center XML News via RSS Member Services WebMD University My WebMD Find a Physician Medical Info Check Symptoms Medical Library Health Tools Clinical Trials ... Women, Men, Lifestyle Who We Are About WebMD Site Map You are in Medical Library Our Content Sources Ask A Question Clinical Trials Health Guide A-Z Health Topics Symptoms Medical Tests Medications ... For a Complete Report Acidemia, Propionic Important 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. Synonyms PCC Deficiency Propionyl CoA Carboxylase Deficiency Ketotic Glycinemia Hyperglycinemia with Ketoacidosis and Lactic Acidosis, Propionic Type Disorder Subdivisions Propionic Acidemia, Type I (PCCA Deficiency) Propionic Acidemia, Type II (PCCB Deficiency) General Discussion 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.

2. Propionic Acidemia Hyperglycinemia With Ketoacidosis And Lactic Propionic Acidemia Hyperglycinemia with Ketoacidosis and Lactic Acidosis Propionic Type Ketotic Glycinemia pcc deficiency Propionyl CoA Carboxylase http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126

3. Index PC Deficiency pcc deficiency Phosphorylase Deficiency Glycogen StorageDisease Phosphorylase Kinase Deficiency of Liver http://my.webmd.com/hw/index/index-topics-P.asp

var guid_source = ""; var guid_source_id = ""; //unused var encodedurl = ""; WebMD Today Home WebMD News Center XML News via RSS Member Services WebMD University My WebMD Find a Physician Medical Info Check Symptoms Medical Library Health Tools Clinical Trials ... Women, Men, Lifestyle Who We Are About WebMD Site Map You are in Medical Library Our Content Sources Ask A Question Clinical Trials Health Guide A-Z Health Topics Symptoms Medical Tests Medications ... Support Organizations Search the Help Health Topics Click a letter to see a list of topics beginning with that letter A B C D ... PY P. P.E.T. back to top PA PA Pachydermoperiostosis Pachydermoperiostosis Syndrome PAD (Peripheral Arterial Disease) ... back to top PB PBC back to top PC PC Deficiency PCC Deficiency PCH PCLD ... back to top PD PDH Deficiency back to top PE Peak Expiratory Flow Monitoring for Asthma Peanut Allergy Pediatric Cardiomyopathy Pediatric Preparation for Medical Tests ... back to top PF PFD Pfeiffer Syndrome Type I Pfeiffer-Weber-Christian syndrome back to top PG PGA II PGK back to top PH PH Type I Phakomatosis TS Pharmacogenic Myopathy Pharyngeal Pouch Syndrome ... Phenytoin, Fetal Effects Of

4. PCC Diagnostics Service PCC DIAGNOSTIC SERVICE. KRAUSLAB MAIN PAGE CBS PCC DIAGNOSTICS CBS deficiency pcc deficiency SEARCH http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126

5. PCC Diagnostics Service Enzyme analysis for propionic acidemia due to pcc deficiency. Our service includesculturing of patientderived skin fibroblasts to a sufficient density to http://www.uchsc.edu/cbs/diagnostic/diagn_pcc_form.htm

PCC DIAGNOSTIC SERVICE KRAUSLAB MAIN PAGE CBS PCC DIAGNOSTICS ... CBS deficiency PCC deficiency SEARCH PLEASE FILL OUT ALL THE REQUIRED INFORMATION IN THE FORM BELOW AND SUBMIT IT THROUGH THE INTERNET. WE WILL INFORM YOU IMMEDIATELY THAT YOUR SUBMISSION WAS SUCCESSFUL. ONLY ELECTRONIC SUBMISSION WILL BE ACCEPTED! PLEASE DON'T SEND US A PRINT (FAX) COPY OF THIS FORM! Enzyme analysis for propionic acidemia due to PCC deficiency. Our service includes culturing of patient-derived skin fibroblasts to a sufficient density to allow for several assays of propionyl-CoA carboxylase (PCC) activity. As an internal control we perform beta-methylcrotonyl-CoA carboxylase (MCC) activity assays. An inclusion of skin fibroblast culture from at least one of the parents may make it possible to determine whether the pathogenic mutation occurred in the alpha or beta subunit of the enzyme. Sample transport information. Please call Dr. Jan P. Kraus at (303)-315-7858 prior to shipping. For analysis we require two 25 cm3 flasks of skin fibroblasts completely filled with medium and with the caps tightly sealed and wrapped with a layer of parafilm. The culture medium we recommend is MEM supplemented with 10-15 % serum, 100U/ml penicillin-G, 100mcg/ml Streptomycin and 2 mM L-glutamine). Please, let us know if you are using different antibiotics or different concentrations in the media. Ship well wrapped at ambient temperature in a styrofoam container.

6. CBS Diagnostics Service CBS DIAGNOSTIC SERVICE. KRAUSLAB MAIN PAGE CBS PCC DIAGNOSTICS CBS deficiency pcc deficiency SEARCH http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126

7. About PCC Initial investigations into the genetics of pcc deficiency were performed onfused fibroblast lines (Gravel et al. 1977; Wolf 1980; Wolf et al. 1980). http://www.uchsc.edu/cbs/pcc/about_pcc.htm

ABOUT PCC KRAUSLAB MAIN PAGE CBS PCC PCCA mutations ... Mutation submission About PCC Other PCC pages DIAGNOSTICS SEARCH PROPIONIC ACIDEMIA 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. Propionic acidemia was first described in 1961 by Childs et al. (Fenton and Rosenberg 1995) . Surtees et al. have also reported a high prevalence of neurologic sequelae, including dystonia, severe chorea, and pyramidal signs, particularly in patients who survive longer. Leukopenia and thrombocytopenia, perhaps due to marrow suppression by one or more of the toxic metabolites produced, is also not uncommon. Recently, magnetic resonance imaging of the brain in three PCC patients revealed delayed myelination and some cerebral atrophy. Proton magnetic resonance spectroscopy from a voxel located in basal ganglia revealed a decrease in N-acetylaspartate and myo-inositol peaks and an elevation of GLN/GLU. The presence of spectroscopic abnormalities indicates that the metabolic balance on cerebral parenchymal level is less optimal than estimated from biochemical analysis of urine, plasma, or cerebrospinal fluid (Bergman et al. 1996). Biochemically, patients with this disorder present with elevated levels of propionic acid, methylcitrate

8. Propionic Acidemia - Genetics Home Reference ketotic glycinemia ketotic hyperglycinemia. pcc deficiency propionicacidemia propionylCoA carboxylase deficiency http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126

9. EMedicine - Biotin Deficiency : Article By Howard R Sloan, MD, PhD† In the absence of PCC, a severe clinical disease (characterized by acidosis, a severe clinical illness (similar to that of pcc deficiency) develops. http://www.emedicine.com/ped/topic238.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 Nutrition Biotin Deficiency Last Updated: April 13, 2005 Rate this Article Email to a Colleague Synonyms and related keywords: biotin, carboxylase, carboxylase deficiency , egg-white injury, egg-white syndrome, egg-white injury syndrome, biotinidase deficiency inherited biotinidase deficiency nutritional disorder severe dermatitis , loss of hair, lack of muscular coordination , avidin, propionyl coenzyme A carboxylase propionyl CoA carboxylase , PCC, pyruvate carboxylase PC b -methylcrotonyl CoA carboxylase, b -MCC, acetyl coenzyme A carboxylase, acetyl CoA carboxylase, ACC, acidosis hypoglycemia hyperammonemia , coma, seborrheic dermatitis fungal infections , erythematous periorofacial macular rash, alopecia mild depression , somnolence, myalgias, hyperesthesias, paresthesias, profound lassitude, prolonged total parenteral nutrition therapy, TPN therapy, phenytoin primidone carbamazepine , prolonged oral antibiotic therapy AUTHOR INFORMATION Section 1 of 11 Author Information Introduction Clinical Differentials ... Bibliography Author: , Former Professor, Department of Pediatrics, Albert Einstein College of Medicine and Long Island College Hospital American Academy of Pediatrics American Association for the Advancement of Science American Chemical Society American Heart Association ... American Pediatric Society , and

10. Acidemia, Propionic - Quest Diagnostics Patient Health Library Synonyms. pcc deficiency. Propionyl CoA Carboxylase Deficiency. Ketotic Glycinemia http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126

11. EMedicine - Biotin Deficiency : Article Excerpt By: Howard R Sloan, MD, PhD† Biotin Deficiency Biotin deficiency is a rare nutritional disorder caused by a a severe clinical illness (similar to that of pcc deficiency) develops. http://www.emedicine.com/ped/byname/biotin-deficiency.htm

(advertisement) Excerpt from Biotin Deficiency Synonyms, Key Words, and Related Terms: biotin, carboxylase, carboxylase deficiency , egg-white injury, egg-white syndrome, egg-white injury syndrome, biotinidase deficiency inherited biotinidase deficiency nutritional disorder severe dermatitis , loss of hair, lack of muscular coordination , avidin, propionyl coenzyme A carboxylase propionyl CoA carboxylase , PCC, pyruvate carboxylase PC b -methylcrotonyl CoA carboxylase, b -MCC, acetyl coenzyme A carboxylase, acetyl CoA carboxylase, ACC, acidosis hypoglycemia hyperammonemia , coma, seborrheic dermatitis fungal infections , erythematous periorofacial macular rash, alopecia mild depression , somnolence, myalgias, hyperesthesias, paresthesias, profound lassitude, prolonged total parenteral nutrition therapy, TPN therapy, phenytoin primidone carbamazepine , prolonged oral antibiotic therapy Please click here to view the full topic text: Biotin Deficiency Background: Biotin deficiency is a rare nutritional disorder caused by a deficiency of the water-soluble B vitamin termed biotin. In this article, biotin deficiency resulting from deficiency of the enzyme biotinidase is discussed (see also Biotinidase Deficiency Biotin deficiency rarely, if ever, occurs in healthy individuals who consume a regular diet unless they are being treated either with certain anticonvulsants or with broad-spectrum antibiotics. The extremely low prevalence of biotin deficiency is probably the result of a combination of factors. First, the daily requirement for biotin is low at approximately 150-300

12. Acidemia, Propionic Synonyms. pcc deficiency. Propionyl CoA Carboxylase Deficiency. Ketotic Glycinemia http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126

13. Acidemia, Propionic Synonyms. pcc deficiency; Propionyl CoA Carboxylase Deficiency; Ketotic Glycinemia;Hyperglycinemia with Ketoacidosis and Lactic Acidosis, Propionic Type http://www.meritcare.com/hwdb/showTopic.asp?pd_hwid=nord500

14. The Molecular Basis Of Human 3-methylcrotonyl-CoA Carboxylase Fibroblasts of an unaffected control, a patient with isolated PC deficiency, and a patient with isolated pcc deficiency were used to confirm http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126

15. Entrez PubMed major complementation group (pcc A; pcc C) with isolated pcc deficiency. activity found in isolated pcc deficiency represents another carboxylase http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=6

16. EMedicine - Biotin Deficiency Article By Howard R Sloan, MD In absence of bMCC, a severe clinical illness (similar to that of pcc deficiency) develops. http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126

17. Inborn Errors Of Metabolism: Organic Acidemia Association Glutaric Acidemia Type I (GA1) This enzyme deficiency disorder is KetoticGlycinemia, pcc deficiency, Propionyl CoA Carboxylase Deficiency http://www.oaanews.org/definitions.asp

Organic Acidemia Association a registered 501(c)3 Non Profit Parent Support Organization since 1991 13210 35th Avenue North, Plymouth, MN 55441 Tel: (763) 559-1797; Fax: (763) 694-0017 Email: OAANews@aol.com Search OAANews: Newsletters Questionnaire Sites of Interest GeneClinics Organic Acidemia Overview OAA Brochure What is Organic Acidemia? Definitions of various Organic Acid Disorders Board of Directors Contact Info Practical Nutritional Considerations Insurance Formula/Meds Information Info on Isovaleric Acidemia in Spanish OAA Holiday Donation Card Ketone Utilization Disorder Spanish Info Organic Acid Disorders This is a group of autosomal recessive conditions with exceedingly limited incidences. 2,4-Dienoyl-CoA Reductase Deficiency This is a deficiency in an auxiliary enzyme of beta-oxidation. Primary symptoms are neonatal hypotonia and respiratory acidosis. Treatment calls for dietary restrictions and carnitine supplementation. 2-Methylbutyryl-CoA Dehydrogenase Deficiency (2MBCD) The gene defect for 2-Methylbutyryl-CoA Dehydrogenase Deficiency 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 3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency (HMG) If this disorder is untreated, it is likely to result in death during childhood. Symptoms may include metabolic acidosis, hypoglycemia, sensitivity to dietary leucine, carnitine deficiency, hepatomegaly, fever, somnolence, and coma. Treatment involves restriction of leucine, supplementary glucose to prevent hypoglycemia, and carnitine supplementation.

18. EMedicine - Biotin Deficiency Article Excerpt By Howard R In absence of bMCC, a severe clinical illness (similar to that of pcc deficiency) develops. http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126

19. 606054 PROPIONIC ACIDEMIA PROPIONYLCoA CARBOXYLASE DEFICIENCY pcc deficiency GLYCINEMIA, KETOTIC (1989) successfully diagnosed pcc deficiency in the first trimester of pregnancy http://srs.sanger.ac.uk/srsbin/cgi-bin/wgetz?[omim-ID:606054] -e

20. *232000 PROPIONYL-CoA CARBOXYLASE, ALPHA SUBUNIT; PCCA To characterize PCCA gene mutations responsible for pcc deficiency, Richard et al.(1997) analyzed RTPCR products obtained from cultured fibroblasts from http://srs.sanger.ac.uk/srsbin/cgi-bin/wgetz?[omim-ID:232000] -e

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