1. EMedicine - Biotin Deficiency : Article Excerpt By: Howard R Sloan, MD, PhD † bMCC, a severe clinical illness (similar to that of pcc deficiency) develops. ACC is required for the catalysis of the 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.

2. Definitions Of Genetic Disorders -P definitions of genetic disorders and birth defects. pcc deficiency http//www.stepstn.com/nord/rdb_sum/500. htm http://www.icomm.ca/geneinfo/def-p.htm

The GAPS INDEX to Information on the Internet about Genetic Disorders and Birth Defects Genetic Information and Patient Services, Inc. (GAPS) HOME DISORDERS GLOSSARY Definitions of Genetic Disorders beginning with the letter P Click on the link next to the disorder to view its definition. P-V congheart.html PA amenor.htm PAC arrhythm.htm Pachyonychia Ichtyosiforme pachon.htm Pachyonychia Congenita with Natal Teeth pachon.htm Pachyonychia Congenita ed.htm Pachyonychia Congenita Keratosis Disseminata Circumscripta (follicularis) pachon.htm Pachyonychia Congenita Jadassohn-Lewandowsky Type pachon.htm PAF with MSA shydrager.htm Paget's Disease paget.htm Paget's Disease of Bone paget.htm Paget's Disease of the Breast pagetbr.htm Paget's Disease of the Nipple pagetbr.htm Paget's Disease of the Nipple and Areola pagetbr.htm Pagon Syndrome walkerwar.htm Painful Ophthalmoplegia tolosahunt.htm PAIS androgen.htm Palatal Myoclonus myoclonus.htm

3. Transitions: Placement Testing - Deficiencies You are NOT eligible to take a placement test for a pcc deficiency. Youradvisor will assist you in scheduling the appropriate course work. http://www.nku.edu/~admitnku/Transitions/placement/deficiencies.htm

Placement Testing Deficiencies English Placement Testing Information Math ... Reading There are two different types of deficiencies: PCC Deficiencies The PCC was established by the Kentucky Council on Post-Secondary Education for all students seeking admission to Kentucky State Universities. If you have any PCC deficiencies that are checked on the Status of Admission Form, you are required to take the prescribed courses within your first year at NKU. You are NOT eligible to take a placement test for a PCC deficiency. Your advisor will assist you in scheduling the appropriate course work. ACT or SAT Deficiencies If you have an ACT or SAT deficiency in English, Math and/or Reading, you may be eligible for placement tests. If you are eligible for placement testing and choose not to test, you will be required to take the appropriate developmental (pre-college) course work. Last updated: April 11, 2002

4. Admissions Northern Kentucky University is first committed to providing quality undergraduate education to citizens of Kentucky. 60% nationally for the English or mathematics subject areas will not be judged to have a pcc deficiency in these areas. http://access.nku.edu/catalog/2000_catalog/admissions.htm

Back to Table of Contents Admissions PHILOSOPHY APPLICATION FEE POLICIES 1. a high school counselor or principal; 2. a Talent Search counselor or Upward Bound official; 3. a member of NKU Student Support Services; 4. the State of Kentucky (Certification of Financial Assistance). An application for admission (undergraduate or graduate) will not be processed until NKU receives the application fee or the fee waiver is approved. Prompt correspondence regarding the application fee requirement will be sent to all applicants failing to submit the fee. ADMISSION: UNDERGRADUATE STUDENTS PURSUING A DEGREE Application materials for non-matriculants are retained for one year after application and then are destroyed. All credentials submitted for admission become the property of the University and will not be returned to applicants. A. 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-admission student or a non-degree student at NKU) is classified as a first-time freshman student. 1. Application Requirements

5. 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/sm/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.

6. About PCC and genotype of propionic acidemia due to pcc deficiency, complicates the rational development of improved treatment http://www.uchsc.edu/sm/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

7. SpringerLink: Human Genetics - Abstract Volume 101 Issue 1 (1997) Pp 93-96 To characterize PCCA gene mutations responsible for pcc deficiency, we analyzed RTPCR products obtained from cultured http://link.springer.de/link/service/journals/00439/bibs/7101001/71010093.htm

Human Genetics ISSN: 0340-6717 (printed version) ISSN: 1432-1203 (electronic version) Table of Contents Abstract Volume 101 Issue 1 (1997) pp 93-96 Three novel splice mutations in the PCCA gene causing identical exon skipping in propionic acidemia patients Received: 6 June 1997 / Accepted: 14 July 1997 Abstract Article in PDF-Format Online publication: October 6, 1997 helpdesk.link@springer.de

8. Stoornissen Betreffende De Stofwisseling Van Organische Zuren Synoniemen PropionylCoA-Carboxylase Deficiency; pcc deficiency; Ketotic Glycinemia; http://www.homepages.hetnet.nl/~b1beukema/ziekorganische.html

Stoornissen betreffende de stofwisseling van organische zuren Alkaptonurie: 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 Homogentisate + O L-2- Hydroxyglutaricacidemia: L-2- a -Hydroxyglutaricacidemia Synoniemen: L-2-Hydroxyglutaar-acidurie OMIM: OMIM: Clinical Synopsis D-2-Hydroxyglutaricaciduria: D-2- a -Hydroxyglutaricaciduria Synoniemen: D-2-Hydroxyglutaar-acidurie OMIM: OMIM: Clinical Synopsis Vertakte- keten organo-aciduri eën: 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;

9. THE LIGHTNING HYPERTEXT OF DISEASE. with ketoacidosis and leukopenia type i ketotic hyperglycinemia i propionicacidemiatype i propionylcoa-carboxylase deficiency type i pcc deficiency type i http://www.pathinfo.com/cgi-bin/lh.cgi?tx=ketotic

10. THE LIGHTNING HYPERTEXT OF DISEASE. ketoacidosis and leukopenia type ii ketotic hyperglycinemia ii propionicacidemiatype ii propionylcoa-carboxylase deficiency type ii pcc deficiency type ii http://www.pathinfo.com/cgi-bin/lh.cgi?tx=pccb

11. Diagnostics HOMOCYSTINURIA AND PROPIONIC ACIDEMIA Our service includes culturing of patientderived skin fibroblasts to a sufficient density to allow for several assays of cystathionine ß-synthase (CBS) or propionyl-CoA carboxylase (PCC) activity. CBS. PCC. DIAGNOSTICS. CBS deficiency. pcc deficiency. SEARCH. HOMOCYSTINURIA AND PROPIONIC ACIDEMIA http://www.uchsc.edu/sm/cbs/diagnostic/diagnostic.htm

DIAGNOSTICS KRAUSLAB MAIN PAGE CBS PCC DIAGNOSTICS CBS deficiency PCC deficiency SEARCH HOMOCYSTINURIA AND PROPIONIC ACIDEMIA Our service includes culturing of patient-derived skin fibroblasts to a sufficient density to allow for several assays of cystathionine ß-synthase (CBS) or propionyl-CoA carboxylase (PCC) activity. Typically, a complete report will be mailed within 3 weeks to the patient's physician. Please call to inquire about prenatal diagnosis for CBS deficiency and pricing Address for overnight shipment: Jan P. Kraus, Ph.D. University of Colorado, Health Sciences Center, Department of Pediatrics, Bldg. BRB, Room 833C, 4200 E. Ninth Ave. DENVER, CO, 80262 Tel.: 303-315 7858

12. New Page 1 has an ACT or SAT score in the top 60% nationally for the English, mathematics,or science subject areas will not be judged to have a pcc deficiency in these 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 This is an On Line application if you are having problems with paying and sending the application please call or email customer service at help@applyweb.com or (503) 973-5213. 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.

13. New Page 1 for the English, mathematics, or science subject areas will not be judged to have a pcc deficiency in these areas. http://www.nku.edu/~admitnku/Freshmen%20Students.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 This is an On Line application if you are having problems with paying and sending the application please call or email customer service at help@applyweb.com or (503) 973-5213. 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.

14. Health Library - Acidemia, Propionic Synonyms. pcc deficiency; Propionyl CoA Carboxylase Deficiency; Ketotic Glycinemia;Hyperglycinemia with Ketoacidosis and Lactic Acidosis, Propionic Type. http://health_info.nmh.org/Library/HealthGuide/IllnessConditions/topic.asp?hwid=

15. NORD - National Organization For Rare Disorders, Inc. Acidosis, Propionic Type; Ketotic Glycinemia; pcc deficiency; PropionylCoA Carboxylase Deficiency. Disorder Subdivisions Propionic Acidemia http://www.rarediseases.org/search/rdbdetail_abstract.html?disname=Acidemia, Pro

16. Directory :: Look.com pcc deficiency (4) POEMS Syndrome (3) Pain (46) Pallister Killian Mosaic Syndrome(3) PallisterHall Syndrome (6) Pancreatic Cancer (32) Pancreatitis (9) Panic http://www.look.com/searchroute/directorysearch.asp?p=43358

17. Searchalot Directory For P pcc deficiency (4); POEMS Syndrome (3); Pain (46); Pallister KillianMosaic Syndrome (3); PallisterHall Syndrome (6); Pancreatic Cancer http://www.searchalot.com/Top/Health/ConditionsandDiseases/P/

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18. P AD.COM Webmaster Free AD, Search P. Top Health Conditions_and_Diseases P Categories pcc deficiency; @ POEMS Syndrome; @ Pain; http://www.ad.com/Health/Conditions_and_Diseases/P/

search Top Categories: PCC Deficiency @ POEMS Syndrome @ Pain @ Pallister-Hall Syndrome ... @ Pyromania AD.COM Web Directory is based on ODP - Open Directory Project data. No proprietary software was used in the development of this web site. Help build the largest human-edited directory on the web. Submit a Site Open Directory Project Become an Editor

19. Propionic Acidemia pcc deficiency; Ketotic Glycinemia;.Hyperglycinemia with Ketoacidosis and Leukopenia; Ketotic Hyperglycinemia. http://www.ad.com/Health/Conditions_and_Diseases/P/__PCC_Deficiency

search Top Cadence's Story The story of one little girl's life with the genetic disease Propionic Acidemia. Category: Health > Conditions and Diseases > Genetic Disorders > Propionic Acidemia http://wvnvm.wvnet.edu/~ncb00582/ eMedicine An in depth look at Propionic acidemia. Category: Health > Conditions and Diseases > Genetic Disorders > Propionic Acidemia http://www.emedicine.com/NEURO/topic577.htm NORD - Acidemia, Propionic Includes the synonyms, a general discussion and further resources. Category: Health > Conditions and Diseases > Genetic Disorders > Propionic Acidemia Pediatric Database Offers a definition of propionic acidemia as well as the epidemiology, pathogenesis, clinical features, investigations and management. Category: Health > Conditions and Diseases > Genetic Disorders > Propionic Acidemia http://www.icondata.com/health/pedbase/files/PROPIONI.HTM AD.COM Web Directory is based on ODP - Open Directory Project data. No proprietary software was used in the development of this web site. Help build the largest human-edited directory on the web.

20. LLP Course Descriptions Designated to eliminate pcc deficiency in English. Emphasizes developing multiparagraphessays. (Does not count toward any degree requirements). http://www.kysu.edu/artsscience/LLP/courses.htm

Descriptions of Regularly Offered Courses (Note: this listing does not include those classes that are offered only upon request of a sufficient number of interested students. A complete listing of all courses is available in the K.S.U. Catalogue . All LLP classes are 3 credit hours.) *note: these descriptions are in the process of being updated* English ENG 088: Reading . Required for students scoring 15 and below on the Enhanced ACT Reading Composite. Three hours of classroom instruction plus individualized instruction to increase the student's general reading comprehension. (Does not count toward any degree requirements). Offered every semester. ENG 089: Basic Writing I . Placement by Enhanced ACT English Composite of 15 and below. This course emphasizes the development of unified, coherent and accurately edited paragraphs. (Does not count toward any degree requirements). Offered every semester. ENG 099: Basic Writing II . Prerequisite: ENG 089 or initial placement with an Enhanced English ACT Composite of 16-18. Designated to eliminate P.C.C. deficiency in English. Emphasizes developing multi-paragraph essays. (Does not count toward any degree requirements). Offered every semester. ENG 101: English Composition I . Prerequisite: A passing grade on the English Placement Test or in ENG 099 or initial placement with an Enhanced English ACT Composite of 19 and above. Emphasis is on command of the fundamentals of language required for effective writing.Offered every semester.

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