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
Extractions: 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.
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
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
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
Extractions: Acronym: PA 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. 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
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
Extractions: Disorder Factsheets 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
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
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
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
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
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
Cathy (pcc deficiency in History) Special sections paired with Biology 102 or Sociology202 203 require permission for registration. http://www.louisville.edu/~cwleis01/
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
Extractions: 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. 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
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
Extractions: 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=''; Return to Flight Space Science Technology Health ... Video News 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 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
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
Extractions: Home What's New Browse Handbook ... Search Browse Browse Genes Browse Chromosomes 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
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
Extractions: Home What's New Browse Handbook ... Search Propionic acidemia On this page: 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. 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?
ACADM deficiency see mediumchain acyl-coenzyme A dehydrogenase deficiency PBGD deficiency see acute intermittent porphyria; pcc deficiency see http://www.urinator.com/testsavailable.htm
Extractions: 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
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 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
Extractions: 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
