PROPIONIC ACIDEMIA propionic acidemia. Gas chromatography. Total ion chromatogram of aurine sample from a patient with propionic acidemia. http://ivo.medfac.acad.bg/lmp/bch/chrom/PROPION.htm
Extractions: ORGANIC ACIDURIAS N OMIM DIAGNOSABLE DISEASES in LMP Diagnosed Patients Urine Bank SS Q C Biotinidase deficiency Holo carboxylase synthetase def iciency Yes Malonyl CoA decarboxylase def iciency No Methylmalonic aciduria Yes Propionic acidemia Yes BRANCHED CHAIN ORGANIC ACIDURIAS 3-Hydroxy-3-Methylglutaryl-CoA lyase def iciency (HMGCL) No 3-Hydroxyisobutyric aciduria 3-Methylcrotonyl-CoA carboxylase def iciency (MCCC1) No 3-Methylglutaconyl-CoA hydratase (MGA1-4) Isovaleric acidemia (IVA) No Mevalonic aciduria (MVK) No Mitochondrial acetoacetyl-CoA thiolase def iciency (MAT) No DISORDERS OF PYRIMIDINE METABOLISM Dihydropyrimidine dehydrogenase def iciency (DPYD) No Orotic aciduria (OA I-II) Yes DIBASIC ACIDURIAS 2-oxoadipic aciduria Glutaric acid em ia I No DISORDERS OF KREBS CYCLE AND GLYCOLYSIS 2-OH Glutaric acid emia Yes D-Glyceric aciduria No Fumarase deficiency No Dihydrolipoyl dehydrogenase (E3) def iciency No Hyperg lycerol emia Yes MISCELLANEOUS DISORDERS 4-Hydroxy butyric aciduria No Alkaptonuria Yes Canavan disease Yes SS Selective Metabolic Screening; QC Samples of External Quality Control (ERNDIM)
Arch Neurol -- Page Not Found Neurologic Nonmetabolic Presentation of propionic acidemia Author InformationWilliam L. Nyhan, MD, PhD; Carolyn Bay, MD; ElizaBeth Webb Beyer, RN, MSN http://archneur.ama-assn.org/issues/v56n9/abs/nob8249.html
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Inborn Errors Of Metabolism: Organic Acidemia Association Parent Interprets Research on propionic acidemia. by Janice S. Boecker,mom to Kristin, PA. Dr. Miyazaki's research team has genetically http://www.oaanews.org/article.asp?article=176
Inborn Errors Of Metabolism: Organic Acidemia Association propionic acidemia Q A. by Dr. Alan Greene. Question Some friends of minerecently had a baby who was diagnosed with propionic acidemia. http://www.oaanews.org/article.asp?article=113
REFERENCES (2002) propionic acidemia Analysis of mutant propionylCoA carboxylase enzymesexpressed in Escherichia coli. Hum Mutat. 19(6)629-40. MEDLINE. http://www.uchsc.edu/sm/cbs/pcc/references.htm
Extractions: REFERENCES PCCA Mutations Campeau E , Dupuis L, Leclerc D, Gravel RA Detection of a normally rare transcript in propionic acidemia patients with mRNA destabilizing mutations in the PCCA gene. Hum Mol Genet [MEDLINE] Campeau E , Dupuis L, Le on-Del-Rio A, Gravel R Coding sequence mutations in the alpha subunit of propionyl-CoA carboxylase in patients with propionic acidemia. Mol Genet Metab [MEDLINE] Campeau E, Desviat LR, Leclerc D, Perez B, Ugarte M, Gravel RA. Structure of the pcca gene and distribution of mutations causing propionic acidemia. Mol Genet Metab Sep-Oct;74(1-2):238-47 [MEDLINE] Desviat LR, Campeau E, Leclerc D, Perez B, Ugarte M, Scherer S, Gravel RA. Structure of the PCCA gene and identification of novel mutations in propionic acidemia. J Inherit Metab Dis (Suppl.1), p56 [MEDLINE not available]
About PCC propionic acidemia. A disorder of metabolic acidosis. propionic acidemiawas first described in 1961 by Childs et al. (1961). The http://www.uchsc.edu/sm/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
Propionic Acidemia Is A Rare Inherited Genetic Disorder Of propionic acidemia is a rare inherited genetic disorder of propionate metabolismcharacterized by greatly increased concentrations of propionate and related http://www.shsna.com/html/propionic.htm
Extractions: Propionic Acidemia is a rare inherited genetic disorder of propionate metabolism characterized by greatly increased concentrations of propionate and related metabolites in blood and urine. The disorder is caused by a defective enzyme responsible for the metabolism of methionine, threonine, valine, and isoleucine as well as odd chain fats leading to elevated blood and tissue concentrations of related toxic organic acids. Clinical symptoms of propionic acidemia include metabolic acidosis, hyperammonemia, vomiting, failure-to-thrive, lethargy, respiratory distress, and coma. Untreated, a child may suffer from irreversible brain damage and death. Symptoms may be prevented and the disorder may be managed by diet. The treatment of propionic acidemia consists of strict dietary control of methionine, threonine, valine, and isoleucine intake. High protein foods are restricted in this diet (i.e., meat and meat products, milk and milk products, legumes, nuts, etc.). Low protein medical foods, minimal quantities of low-protein grains, fruits, and vegetables in combination with fat and sugar are permitted. Without additional calories and amino acids (excluding the above mentioned), a propionic acidemia patient would experience malnutrition. Thus, the majority of the patient's daily intake must come from a medical food free of methionine, threonine, valine, and isoleucine, but complete with vitamins, minerals, trace elements and essential and nonessential amino acids.
Taste And Choice Are The Key To Diet Compliance. SHS Offers A Formulas are available for Phenylketonuria, Maple Syrup Urine Disease, Tyrosinemia(Types I II), Homocystinuria, propionic acidemia and Methylmalonic Acidemia http://www.shsna.com/html/metabolic.htm
Extractions: Age Group Description Phenylketonuria (PKU) XPhe Analog Infants birth to 1 year phenylalanine-free XP Maxamaid Children 1 to 8 years XP Maxamum Children 8 years to adults Periflex Children over 1 year Phlexy-10 System Children and adults Maple Syrup Urine Disease (MSUD) MSUD Analog Infants birth to 1 year valine-, leucine-, isoleucine-free MSUD Maxamaid Children 1 to 8 years MSUD Maxamum Children 8 years to adult Acerflex Children over 1 year Tyrosinemia Type I XPhe, XTyr Analog Infants birth to 1 year phenylalanine-, tyrosine-free XPHEN, TYR Maxamaid Children 1 to 8 years XPTM Analog Infants birth to 1 year phenylalanine-, tyrosine-, methionine-free Hypermethioninemia Homocystinuria -Vitamin B non-responsive due to Cystathionine B-Synthase Deficiency XMet Analog Infants birth to 1 year methionine-free XMET Maxamaid Children 1 to 8 years XMET Maxamum Children 8 years to adult Propionic Acidemia XMTVI Analog Infants birth to 1 year methionine-, threonine-, valine-free, isoleucine low XMTVI Maxamaid Children 1 to 8 years XMTVI Maxamum Children 8 years to adult Methylmalonic Acidemia Vitamin B12 non-responsive XMTVI Analog Infants birth to 1 year methionine-, threonine-, valine-free, isoleucine low
NORD - National Organization For Rare Disorders, Inc. General Discussion propionic acidemia is a rare metabolic disorder characterizedby deficiency of propionyl CoA carboxylase, an enzyme involved in the http://www.rarediseases.org/search/rdbdetail_abstract.html?disname=Acidemia, Pro
Health Library - Acidemia, Propionic propionic acidemia is a rare metabolic disorder characterized by deficiency of propionylCoA carboxylase, an enzyme involved in the breakdown (catabolism) of http://health_info.nmh.org/Library/HealthGuide/IllnessConditions/topic.asp?hwid=
Searchalot Directory For Propionic Acidemia Pediatric Database Offers a definition of propionic acidemia as well as the epidemiology,pathogenesis, clinical features, investigations and management. http://www.searchalot.com/Top/Health/ConditionsandDiseases/GeneticDisorders/Prop
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Connexion 2000. 2, Detection of a normally rare transcript in propionic acidemia patientswith mRNA destabilizing mutations in the PCCA gene. Campeau E, et al. http://www.dsi.univ-paris5.fr/genatlas/tbiblio.php?symbol=PCCA
Extractions: PUBLICACIONES 91. "Two cases of biotinidase deficiency within a 9 day period after 8 years of neonatal screening involving the analysis of 175.000 newborn children" .D.E. Castiñeiras, M.L. Couce, J.R. Alonso Fernández, M. Castro, C. Pérez-Cerdá and M. Ugarte. Proceedings III International Society for Neonatal Screening. Editors H. L. Levy, R. J. Hermos, G. F. Grady. (1997) 190-191. 93. "Relationship between mutation genotype and biochemical phenotype in a heterogeneus Spanish PKU population" L. R. Desviat, B. Pérez, M.J. García, M. Martinez Pardo, A. Baldellou, J. Arena, P. Sanjurjo, J. Campistol, M.L. Couce, A. Fernández, J. Cardesa and M. Ugarte. Eur. J Hum. Genet. (1997) 5:196-202
Directory :: Look.com propionic acidemia (4) See Also. Sites. Cadence's Story The story of onelittle girl's life with the genetic disease propionic acidemia. http://www.look.com/searchroute/directorysearch.asp?p=593664
South African Journal Of Science A recent achievement in the department was the prenatal diagnosis ofpropionic acidemia, an often fatal deficiency condition. This http://www.nrf.ac.za/sajs/sm_feb98.stm
Extractions: Volume 94 No. 2 February 1998 Prenatal detection of inborn errors of metabolism The latest developments in mass spectrometry provide a highly sensitive and flexible means of automatically screening for biological markers. This extends the range of detecting sometimes fatal genetic disorders, in an unborn baby for instance, from the presence and ratios of certain chemicals in a blood sample. The Department of Biochemistry and Microbiology at Potchefstroom University considers that more than 400 human disorders may be caused by mutations of a single gene. Most of the individual diseases are quite rare but collectively their incidence is considerable. Approximately 100 inborn errors of metabolism can now be detected prenatally, most by testing for the primary enzyme defect, some by measuring abnormal amounts of specific metabolites or high molecular weight storage material, and some by demonstrating the mutation at DNA level. Having recently acquired a Micromass Quatro II triple quadrupole LCMS/MS for tandem mass spectrometry, the department has progressed from its earlier gas phase system to a liquid one able rapidly to analyse acylcarnitine metabolites, amino acids and bile acids in whole blood and urine. The apparatus is so versatile that it can also be used for peptide and protein analysis.
OS 1/OS 2 For Consumers For use in the nutritional management of infants, children, or adultswith propionic acidemia, or methylmalonic aciduria. Propionic http://www.meadjohnson.com/metabolics/2os1os2.html
