Archives Of Pathology And Laboratory Medicine 127:e325-e328, 2004 e325e328. propionic acidemia A Neuropathology Case Report and Review of PriorCases. Brady Feliz, MD, a David R. Witt, MD, a and Brent T. Harris, MD, PhD a http://arpa.allenpress.com/arpaonline/?request=get-abstract&doi=10.1043/1543-216
Propionic Acidemia 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.
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
Health - Conditions And Diseases - Genetic Disorders - Propionic Top Health Conditions and Diseases Genetic Disorders PropionicAcidemia eMedicine An in depth look at propionic acidemia. http://www.sedirectory.net/Health/Conditions_and_Diseases/Genetic_Disorders/Prop
Extractions: Web Hosting Dir Web Design Dir Search Engine Dir Hardware Info ... Resources Search: Top Health Conditions and Diseases Genetic Disorders ... Propionic Acidemia See also: Health: Conditions and Diseases: Rare Disorders Dr. Greene: Breastfeeding with a Metabolic Disorder and Propionic Acidemia - Breastfeeding a child with propionic acidemia is discussed in this question and answer format. eMedicine - An in depth look at Propionic acidemia. NORD: Acidemia, Propionic - Includes the synonyms, a general discussion and further resources. Pediatric Database - Offers a definition of propionic acidemia as well as the epidemiology, pathogenesis, clinical features, investigations and management.
Extractions: Front Page Today's Digest Week in Review Email Updates ... Genetic Disorders Propionic Acidemia (4 links) See Also: News about Propionic Acidemia Focusing On Preservatives: How They Keep Food Fresh (November 13, 2002) full story Cattle Diets Could Control E. Coli Danger (September 11, 1998) full story [ More news about Propionic Acidemia
Propionic Acidemia - Encyclopedia Article About Propionic Acidemia. Free Access, PillSupplier.com Conditions and Diseases/Genetic Disorders Category propionic acidemia. HOME ABOUT US ORDER STATUS BMI CALCULATOR FAQ CONTACT US. Conditions and Diseases/Genetic Disorders/propionic acidemia. http://encyclopedia.thefreedictionary.com/Propionic acidemia
Extractions: Click the link for more information. that may present in the early neonatal period with progressive encephalopathy and death due to a secondary hyperammonemia Hyperammonemia is a metabolic disturbance characterised by an excess of ammonia in the blood. It is a dangerous condition that may lead to encephalopathy and death. It may be primary or secondary. Ammonia is a substance that contains nitrogen. It is a product of the catabolism of protein. It is converted to the non-toxic substance urea prior to excretion in urine by the kidneys. The metabolic pathways that synthesise urea are located in mitochondria. The process is known as the urea cycle, which comprises several enzymes acting in sequence.
Propionic Acidemia Top Health Conditions and Diseases Genetic Disorders propionic acidemia (4) Previewsby Thumbshots eMedicine An in depth look at propionic acidemia. http://www.oobdoo.com/directory/Health/ConditionsandDiseases/GeneticDisorders/Pr
RedNova News: Propionic Acidemia February 01, 2003. RedNova Health Link. propionic acidemia. SynonymsPCC Deficiency. Propionyl CoA Carboxylase Deficiency. Ketotic Glycinemia. http://www.rednova.com/news/stories/2/2003/02/01/story049.html
Extractions: Forum Check E-mail My RedNova Join Us ... Tell a Friend - Win $500 Search February 01, 2003 RedNova Health Link Propionic Acidemia Synonyms: PCC Deficiency Propionyl CoA Carboxylase Deficiency Ketotic Glycinemia Hyperglycinemia with Ketoacidosis and Lactic Acidosis, Propionic Type More from the world's of science, space, and technology from RedNova Email this story to a friend Post your thoughts on this story
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Extractions: List price: that's off! Average review score: Academic Affairsa cleverly written murder mystery. Phillip Gay fuses the romantic intrigues of academia and the psyche of a killer into a cleverly constructed murder mystery. Intriguing; a great read! Very enjoyable! This book was sexy, exciting and provided a behind-the-scenes look into the academic world. There were a few editing mistakes that I caught, but besides that it was very well written! Academic Affairs: Love and Murder in Academia Enjoyable characters, locations, and situations. Couldn't put it down. Lots of actiondouble murder on page 1. Can't wait for the sequel. Hope there's a movie American Academia and the Survival of Marxist Ideas Published in Hardcover by Praeger Publishers (September, 1996) Author: Dario Fernandez-Morera Amazon base price:
Propionic Acidemia From Linkspider UK Health Directory propionic acidemia by Linkspider UK, propionic acidemia links and PropionicAcidemia topics from our Health directory. Helping you http://linkspider.co.uk/Health/ConditionsandDiseases/GeneticDisorders/PropionicA
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The Turkish Journal Of Pediatrics Neonatal onset propionic acidemia without acidosis a case report. Ýpek Akman 1, Sebahat Ýmamoðlu 1 , Mübeccel Demirkol 2 , Harika Alpay 1 , Eren Özek 1. http://tjp.dergisi.org/summary_en.php3?id=14
REFERENCES Campeau E, Dupuis L, Leclerc D, Gravel RA (1999a) Detection of a normally rare transcriptin propionic acidemia patients with mRNA destabilizing mutations in http://www.uchsc.edu/cbs/pcc/references.htm
Extractions: REFERENCES * An asterisk denotes an unpublished observation. 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/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 propionic acidemia Directory Guide to propionic acidemiasites on the internet. propionic acidemia. http://www.directory.net/Health/Conditions_and_Diseases/Genetic_Disorders/Propio