1. EMedicine - Biotin Deficiency : Article By Howard R Sloan, MD, PhD† Biotin Deficiency 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 propionyl coenzyme A (CoA) carboxylase (PCC), pyruvate carboxylase (PC), b-methylcrotonyl CoA carboxylase illness (similar to that of pcc deficiency) develops. ACC is required for http://www.emedicine.com/ped/topic238.htm

(advertisement) Home Specialties CME PDA ... Patient Education Articles Images CME Patient Education Advanced Search Link to this site Back to: eMedicine Specialties Pediatrics Nutrition Biotin Deficiency Last Updated: March 22, 2002 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 AUTHOR INFORMATION Section 1 of 11 Author Information Introduction Clinical Differentials ... Bibliography Author: Howard R Sloan, MD, PhD† , Former Professor, Department of Pediatrics, Albert Einstein College of Medicine and Long Island College Hospital Howard R Sloan, MD, PhD†, is a member of the following medical societies: American Academy of Pediatrics American Association for the Advancement of Science American Chemical Society American Heart Association ... American Pediatric Society , and Society for Pediatric Research Editor(s): Maria Rebello Mascarenhas, MBBS

2. HealthMedNet ILLNESS DISEASE URL DIRECTORY pcc deficiency, http//directory.ansme.com/health/168.html, pcc deficiency,http//my.webmd.com/content/healthwise/30/7398, pcc deficiency http://www.healthmednet.com/PB-PEY.htm

3. Inborn Errors Of Metabolism: Organic Acidemia Association 2 4Dienoyl-CoA Reductase Deficiency. This is a deficiency in an auxiliary enzyme Acidosis, Propionic Type, Ketotic Glycinemia, 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 Info on Isovaleric Acidemia in Spanish 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.

4. NORD - National Organization For Rare Disorders, Inc. Ketotic Glycinemia. pcc deficiency. Propionyl CoA Carboxylase Deficiency. Disorder Subdivisions rare metabolic disorder characterized by deficiency of propionyl CoA carboxylase, an http://www.rarediseases.org/search/rdbdetail_abstract.html?disname=Acidemia, Pro

5. Acidemia, Propionic Synonyms 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 Member Services WebMD University My WebMD Find a Physician Medical Info Check Symptoms Medical Library Quizzes, Calculators Clinical Trials ... Women, Men, Lifestyle Who We Are About WebMD Site Map You are in Medical Library Choose a Topic 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.

6. Index back to top. PB PBC ^ back to top. PC PC Deficiency pcc deficiencyPCH PCLD PCM PCOS PCOS (Polycystic Ovary Syndrome) PCT ^ back to top. 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 Member Services WebMD University My WebMD Find a Physician Medical Info Check Symptoms Medical Library Quizzes, Calculators Clinical Trials ... Women, Men, Lifestyle Who We Are About WebMD Site Map You are in Medical Library Choose a Topic 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 PAF with MSA ... 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 Pediatric Cardiomyopathy pediculosis Peeling Skin Syndrome Peliosis Rheumatica ... 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 ... back to top PI PI Pi Phenotype ZZ, Z- and

7. EMedicine - Biotin Deficiency : Article Excerpt By: Howard R Sloan, MD, PhD† Biotin Deficiency 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 egg-white syndrome, egg-white injury syndrome, biotinidase deficiency, inherited biotinidase deficiency illness (similar to that of pcc deficiency) develops. ACC is required for 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 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 incidence of biotin deficiency probably is the result of a combination of factors. First, the daily requirement for biotin is low at approximately 150-300 m g/d. Second, significant quantities of biotin are found in almost all foods, and many widely consumed foods are relatively rich in biotin. Third, the intestinal flora synthesizes significant quantities of biotin, and at least a portion of that biotin is believed to be absorbed into the bloodstream. Fourth, a significant fraction of the body's biotin is recycled, that is, a given molecule of biotin may be used repeatedly before it is eventually lost from the body in the feces or urine. Pathophysiology: History Biotin was first recognized as an essential nutrient factor in mammals in 1936. Ten years earlier, the inclusion of large amounts of raw egg whites in experimental diets in rats had produced symptoms of toxicity. The symptoms appeared within a few weeks of initiation of the diet containing raw egg whites. In 1926, Boas referred to these symptoms of toxicity as egg-white injury syndrome. The major findings included severe dermatitis, loss of hair, and lack of muscular coordination. Boas also noted that yeast, liver, and several other foodstuffs contained a substance that protected rats from egg-white injury syndrome. Later, the protective compound in the foodstuffs was identified as biotin.

8. Acidemia, Propionic Synonyms. pcc deficiency; Propionyl CoA Carboxylase Deficiency; Ketotic Glycinemia;Hyperglycinemia with Ketoacidosis and Lactic Acidosis, Propionic Type. http://www.bchealthguide.org/kbase/nord/nord500.htm

document.write(''); var hwPrint=1; var hwDocHWID="nord500"; var hwDocTitle="Acidemia, Propionic"; var hwRank="1"; var hwSectionHWID="nord500"; var hwSectionTitle=""; var hwSource="cn6.0"; var hwProdCfgSerNo="wsh_html_031_s"; var hwDocType="NORD"; National Organization for Rare Disorders, Inc. Acidemia, Propionic Important It is possible that the main title of the report 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) Related Disorders List Information on the following diseases can be found in the Related Disorders section of this report: Ketotic Hyperglycinemia Methylmalonic Acidemias 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.

9. JCI -- Baumgartner Et Al. 107 (4): 495 resistant 3methylcrotonyl-CoA carboxylase (MCC)deficiency is an autosomal recessive disorder of with isolatedPC deficiency, and a patient with isolated pcc deficiency wereused to http://www.jci.org/cgi/content/full/107/4/495

Abstract of this Article PDF Version of this Article eLetters: Submit a response to this article Similar articles found in: JCI Online PubMed PubMed Citation This Article has been cited by: other online articles Search PubMed for articles by: Baumgartner, M. R. Valle, D. Alert me when: new articles cite this article Download to Citation Manager J Clin Invest, February 2001, Volume 107, Number 4, 495-504 Article The molecular basis of human 3-methylcrotonyl-CoA carboxylase deficiency Matthias R. Baumgartner Shlomo Almashanu Terttu Suormala Cassandra Obie Robert N. Cole Seymour Packman E. Regula Baumgartner and David Valle McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University, Baltimore, Maryland, USA Howard Hughes Medical Institute, and Department of Biological Chemistry, Johns Hopkins University, Baltimore, Maryland, USA Department of Pediatrics, University of California, San Francisco, California, USA Address correspondence to: David Valle, 802 PCTB, Johns Hopkins University, 725 N. Wolfe Street, Baltimore, Maryland 21205, USA. Phone: (410) 955-4260; Fax: (410) 955-7397; E-mail: dvalle@jhmi.edu

10. Acidemia, Propionic by this report. Synonyms. pcc deficiency. Propionyl CoA Carboxylase Deficiency. Ketotic Glycinemia rare metabolic disorder characterized by deficiency of propionyl CoA carboxylase, an http://www.peacehealth.org/kbase/nord/nord500.htm

var hwPrint=1;var hwDocHWID="nord500";var hwDocTitle="Acidemia, Propionic";var hwRank="1";var hwSectionHWID="nord500-Header";var hwSource="en-us6.1";var hwDocType="Nord"; National Organization for Rare Disorders, Inc. 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.

11. PCC Diagnostics Service PLEASE DON T SEND US A PRINT (FAX) COPY OF THIS FORM! Enzyme analysisfor propionic acidemia due to pcc deficiency. Our service http://www.uchsc.edu/cbs/diagnostic/diagn_pcc.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.

12. New Page 1 who have not met the precollege curriculum (PCC) as prescribed by the Kentucky Council on Postsecondary Education not be judged to have a pcc deficiency in these areas. http://www.nku.edu/~admitnku/Freshmen Students.htm

Freshman Applicants Please note Undergraduate Admission Deadlines First-Time Freshman Student A student who has attempted no course work at a regionally accredited college or university (except courses taken as an early-admissions student or a non-degree student at NKU) is classified as a first-time freshman student. Application Requirements Submit an application for undergraduate admission and a $25 application fee. You may visit the Office of Admissions to apply or you may apply online Submit an official ACT score report, Compass Score report or SAT score report to the Office of Admissions. Students who have not completed the ACT, SAT or Compass must make arrangements to take the test and have scores sent to NKU. Request that the student's high school send to the Office of Admissions an official transcript covering all work completed at time of application. A final high school transcript will be required upon graduation. Persons who are not high school graduates must also supply a copy of their General Education Development (GED) scores. A student completing a home school diploma must submit the credentials listed for freshman admission, except for the high school transcript from an accredited high school. Additionally, the student must submit.

13. About PCC Clearly, the observed heterogeneity between the phenotype and genotype of propionicacidemia due to pcc deficiency, complicates the rational development of 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

14. Propionic Acidemia,Hyperglycinemia With Ketoacidosis And Lactic Acidosis Propion Propionic Acidemia,Hyperglycinemia with Ketoacidosis and Lactic Acidosis PropionicType,Ketotic Glycinemia,pcc deficiency,Propionyl CoA Carboxylase Deficiency http://www.icomm.ca/geneinfo/propacid.htm

Propionic Acidemia,Hyperglycinemia with Ketoacidosis and Lactic Acidosis Propionic Type,Ketotic Glycinemia,PCC Deficiency,Propionyl CoA Carboxylase Deficiency,Propionic Acidemia Type I (PCCA Deficiency),Propionic Acidemia, Type II (PCCB Deficiency For Information on Workshops and Seminars for Special Needs Children click here The GAPS INDEX to Information on the Internet about Genetic Disorders and Birth Defects Genetic Information and Patient Services, Inc. (GAPS) HOME DISORDERS GLOSSARY Propionic Acidemia also known as: Hyperglycinemia with Ketoacidosis and Lactic Acidosis, Propionic Type Ketotic Glycinemia PCC Deficiency Propionyl CoA Carboxylase Deficiency Disorder Subdivisions Propionic Acidemia, Type I (PCCA Deficiency) Propionic Acidemia, Type II (PCCB Deficiency) 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.

15. P Conditions and Diseases. P. pcc deficiency. POEMS Syndrome pcc deficiency. POEMS Syndrome. PainClinics and Practices, Organizations, Support Groups http://www.slider.com/Health/Conditions_and_Diseases/P.htm

The Web Encyclopaedia Shopping Ah‑ha ... Index The Web Encyclopaedia Shopping Ah-ha Kanoodle Findwhat Summary Top Health Conditions and Diseases P ... Rope Ladders P Page: www.dentalplans.com Sponsored Link Still searching the hard way? Try the Free Slider Search Toolbar and spend less time searching!! www.trellian.com Sponsored Link PCC Deficiency POEMS Syndrome Pain Clinics and Practices ... Pyromania Slider in: Espa±ol Deutsch Dansk Nederlands ... Download the FREE Slider.com Search Toolbar!

16. ,Acidemia Propionic,Propionic Acidemia,Type I (PCCA Deficiency),Type II (PCCB De Acidemia, Propionic also known as Hyperglycinemia with Ketoacidosis and LacticAcidosis, Propionic Type Ketotic Glycinemia pcc deficiency Propionyl CoA http://www.icomm.ca/geneinfo/acidprop.htm

Type I (PCCA Deficiency),Acidemia Propionic,Propionic Acidemia,Type II (PCCB Deficiency),Hyperglycinemia with Ketoacidosis and Lactic Acidosis Propionic Type,Ketotic Glycinemia,Propionyl CoA Carboxylase Deficiency For Information on Workshops and Seminars for Special Needs Children click here The GAPS INDEX to Information on the Internet about Genetic Disorders and Birth Defects Genetic Information and Patient Services, Inc. (GAPS) HOME DISORDERS GLOSSARY Acidemia, Propionic also known as: Hyperglycinemia with Ketoacidosis and Lactic Acidosis, Propionic Type Ketotic Glycinemia PCC Deficiency Propionyl CoA Carboxylase Deficiency Disorder Subdivisions Propionic Acidemia, Type I (PCCA Deficiency) Propionic Acidemia, Type II (PCCB Deficiency) (as defined at http://www.pafoundation.com/pages/869032/index.htm The Propionic Acidemia Foundation (PAF)) WHAT IS PROPIONIC ACIDEMIA? Propionic acidemia is a genetic disorder of branched-chain amino acid metabolism. Odd chain fatty acids and cholesterol are also not metabolized correctly by PA patients, but the bulk of the damage to the body comes from consuming a diet too high in protein. Individuals with PA build up propionic acid and other toxins in their bodies if they consume too much protein containing the amino acids methionine, threonine, isoleucine and valine.

17. Entrez PubMed cells was 183 U (pmol/min/mg protein) compared to 16 U for the untreated mixture(normal range 450850 u). We conclude that pcc deficiency resulted from http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&dopt=Abstra

18. Entrez PubMed of fused cells or indirectly in intact cells by 114Cpropionate utilization,we confirmed the nonlinear nature of the pcc deficiency complementation map http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&dopt=Abstra

19. Stoornissen Betreffende De Stofwisseling Van Organische Zuren Synoniemen PropionylCoA-Carboxylase Deficiency; pcc deficiency; Ketotic Glycinemia;Hyperglycinemia with Ketoacidosis and Leukopenia; Ketotic Hyperglycinemia 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

20. Disease Directory : Genetic Disorders : Propionic Acidemia Propionic Acidemia,Hyperglycinemia with Ketoacidosis and Lactic Acidosis PropionicType,Ketotic Glycinemia,pcc deficiency,Propionyl CoA Carboxylase Deficiency. http://www.diseasedirectory.net/Genetic_Disorders/Propionic_Acidemia/default.asp

Wednesday, June 02, 2004 Genetic Disorders Aarskog Syndrome Aase Syndrome Ablepharon-Macrostomia Syndrome ... Genetic Disorders : Propionic Acidemia (PPA) PROPIONIC ACIDEMIA - Page 1. (PPA) PROPIONIC ACIDEMIA Organic Acid Disorder Also known as Propionyl CoA Carboxylase Deficiency. Definition Propionic acidemia ,Acidemia Propionic,Propionic Acidemia,Type I (PCCA Deficiency) ... - Type I (PCCA Deficiency),Acidemia Propionic,Propionic Acidemia,Type II (PCCB Deficiency),Hyperglycinemia with Ketoacidosis and Lactic Acidosis Propionic Type ? ? Propionic ... - ? ? . ( Propionic Acidemia PPA). ?/ ?. ? . 2413: Co-incidence of PKU and propionic acidemia in an Amish girl. - Program Nr: 2413 Co-incidence of PKU and propionic acidemia in an Amish girl. SE McCandless 1,3 , JW McConnell 2 , DS Kerr 2 . 1 4.7 Mass Screening of Congenital Metabolic Disorder (Propionic ... - 47 Clinical and Forensic Medicine 4.7 Mass Screening of Congenital Metabolic Disorder (Propionic Acidemia and Methylmalonic Acidemia) (2) - GCMS •Explanation Acidemia, Propionic

A  B  C  D  E  F  G  H  I  J  K  L  M  N  O  P  Q  R  S  T  U  V  W  X  Y  Z

Page 1     1-20 of 84    1  | 2  | 3  | 4  | 5  | Next 20