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
Extractions: (advertisement) Home Specialties CME PDA ... Patient Education Articles Images CME Patient Education Advanced Search Link to this site Back to: eMedicine Specialties Pediatrics Nutrition 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
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
Extractions: 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 This is a group of autosomal recessive conditions with exceedingly limited incidences. 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.
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
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
Extractions: 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.
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
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
Extractions: (advertisement) 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 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.
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
Extractions: 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. Information on the following diseases can be found in the Related Disorders section of this report: 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.
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
Extractions: Download to Citation Manager J Clin Invest, February 2001, Volume 107, Number 4, 495-504 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
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
Extractions: 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. 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.
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
Extractions: 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.
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
Extractions: 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.
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
Extractions: 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
Extractions: 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 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.
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
Extractions: 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.
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
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
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
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
Extractions: 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 â¢Explanation Acidemia, Propionic
