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
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.
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
Index PC Deficiency pcc deficiency Phosphorylase Deficiency Glycogen StorageDisease Phosphorylase Kinase Deficiency of Liver http://my.webmd.com/hw/index/index-topics-P.asp
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
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
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.
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
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
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: (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 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
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 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 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
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
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
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
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 Practical Nutritional Considerations Insurance Formula/Meds Information Info on Isovaleric Acidemia in Spanish OAA Holiday Donation Card 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.
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
*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
