Organic Acidemia Management The most common organic acidemias are propionic acidemia (PPA) and methylmalonicacidemia (MMA). Propionic/ Methylmalonic acidemia. Isoleucine (mg/kg). 3090. http://www.meadjohnson.com/metabolics/organicacidemiamanage.html
Extractions: Metabolic Clinic (Genetic Service), Childrens Hospital, Boston, MA Organic acidemias are inherited metabolic disorders, typically in the degradative pathways of amino acids, carbohydrates, and fatty acids. The most common organic acidemias are propionic acidemia (PPA) and methylmalonic acidemia (MMA). These disorders result from a defect in the specific apoenzyme (i.e., propionyl CoA carboxylase or methylmalonyl CoA mutase) or from a deficiency in the vitamin cofactor for that enzyme. Biotin is a cofactor for propionyl CoA carboxylase, and cobalamin (vitamin B ) is a cofactor for methylmalonyl CoA mutase. Cofactor deficiency states may arise from a nutritional deficiency (in both PPA and MMA), from a defect in the endogenous synthesis of the active cofactor (in MMA), or due to impaired recycling of the cofactor (in PPA). The combined estimated incidence of PPA and MMA is about 1:40,000. The pathobiochemistry of PPA and MMA are linked, as shown in Figure 1. PPA and MMA result from the defective breakdown of propionyl CoA or its metabolite methylmalonyl CoA, derivatives of isoleucine, methionine, threonine and valine, odd chain fatty acids, and cholesterol side chains. In normal metabolism, propionyl CoA is converted to methylmalonyl CoA; their products enter the Krebs cycle and oxidative phosphorylation. Propionic and methylmalonic acids are normally found in only minute quantities in the body; in PPA and MMA, however, they and related compounds accumulate in the blood and tissues and are excreted in large concentrations in the urine.
Propionic Acidemia Website Results :: Linkspider UK propionic acidemia Websites from the Linkspider UK. propionic acidemiaDirectory. Complete Results for propionic acidemia Related Topics. http://www.linkspider.co.uk/Health/ConditionsandDiseases/GeneticDisorders/Propio
Extractions: See Also: Health: Conditions and Diseases: Rare Disorders Pediatric Database - Offers a definition of propionic acidemia as well as the epidemiology, pathogenesis, clinical features, investigations and management. eMedicine - An in depth look at Propionic acidemia. Cadence's Story - The story of one little girl's life with the genetic disease Propionic Acidemia. NORD - Acidemia, Propionic - Includes the synonyms, a general discussion and further resources.
Listings Of The World Health Conditions And Diseases Genetic Listings World Health Conditions and Diseases Genetic Disorderspropionic acidemia. Listings World, Over 2 million http://listingsworld.com/Health/Conditions_and_Diseases/Genetic_Disorders/Propio
$BO@J8!&Jd=u6b%j%9%H(B T. Nakahata Unexpectedly high prevalence of the mild form of propionic acidemiain Japan presence of a common mutation and possible clinical implications. http://www.kanazawa-med.ac.jp/~mri-hgbs/ronbun.html
Extractions: $B@82=3X(B $BO@!!J8(B $B!!(B $B!!(B $BLa!!$k(B $B!!!!(B $BO@J8(B T. Kuhara, C. Ohdoi, M. Ohse, A.B.P. van Kuilenburg, A.H. van Gennip, S. Sumi, T. Ito, Y. Wada, I. Matsumoto: Rapid gas chromatographic-mass spectrometric diagnosis of dihydropyrimidine dehydrogenase deficiency and dihydropyrimidinase deficiency. J. Chromatogr. B. (in press, 2003) T. Kuhara: Diagnosis and monitoring of inborn errors of metabolism using urease-pretreatment of urine, isotope dilution, and gas chromatography-mass spectrometry. J. Chromatogr. B. 781: 497-517 (2002) T. Yorifuji, M. Kawai, J. Muroi, M. Mamada, K. Kurokawa, Y. Shigematsu, S. Hirano, N. Sakura, I. Yoshida, T. Kuhara, F. Endo, H. Mitsubuchi, T. Nakahata: Unexpectedly high prevalence of the mild form of propionic acidemia in Japan: presence of a common mutation and possible clinical implications. Hum. Genet. 111(2): 161-165 (2002) M. Ohse
Prof. K.-J. Hsiao 2. Organic aciduria (acidemia) To establish a biochemical analysis system for confirmatoryand differential diagnosis of propionic acidemia and methylmalonic http://www.ym.edu.tw/ig/hsiao/
Extractions: Research The major research interests of the laboratory are to develop preventive medicine programs through clinical biochemistry research and the related basic and application research. The major target diseases are inherited metabolic disorders. The current research interests: Phenylketonuria (PKU): To establish a biochemical analysis system to differentiate tetrahydrobiopterin (BH4) deficient PKU from phenylalanine hydroxylase deficient PKU for the proper treatment of PKU. To identify the molecular defects of BH4 deficient PKU by molecular genetic approaches and to investigate the relationship between phenotypes and genotypes.
Extractions: PRINTER'S NO. 172 THE GENERAL ASSEMBLY OF PENNSYLVANIA SENATE BILL N o. Session of 2001 INTRODUCED BY BELL, JANUARY 30, 2001 REFERRED TO PUBLIC HEALTH AND WELFARE, JANUARY 30, 2001 AN ACT 1 Amending the act of September 9, 1965 (P.L.497, No.251), 2 entitled "An act requiring physicians, hospitals and other 3 institutions to administer or cause to be administered tests 4 for phenylketonuria and other metabolic diseases upon infants 5 in certain cases," further providing for newborn child 6 screening and testing. 7 The General Assembly of the Commonwealth of Pennsylvania 8 hereby enacts as follows: 9 Section 1. Section 3 of the act of September 9, 1965 10 (P.L.497, No.251), known as the Newborn Child Testing Act, added 11 July 9, 1992 (P.L.398, No.86), is amended to read: 12 Section 3. Newborn Child Screening and Follow-up Program.
Medicalseek - Search Engine For The Healthcare Industry Conditions and DiseasesGenetic Disorderspropionic acidemia Cadence's Story Thestory of one little girl's life with the genetic disease propionic acidemia. http://www.medicalseek.net/Conditions_and_Diseases_Genetic_Disorders_Propionic_A
Untitled Document PCCA, A27883, YBR208C, not class III, propionic acidemia, type I (PA1). PCCB,A53020, YNR016C, not measured, propionic acidemia, type II (PA-2). http://www-deletion.stanford.edu/YDPM/mtdisease_yeasthomolog.html
Extractions: gene name protein ID yeast ortholog homozygous deletion disease class III Wilson disease (WD) BCKDHA DEHUXA class III Maple syrup urine disease (MSUD) BCKDHB class III Maple syrup urine disease (MSUD) class III Tubulopathy, encephalopathy, and liver failure due to CIII deficiency class III Deficiency of complex IV DBT class III Maple syrup urine disease (MSUD) DLD DEHULP class III Dihydrolipoamide dehydrogenase deficiency;Leigh syndrome FH UFHUM class III Deficiency of fumarate hydratase GCSH GCHUH class III Non-ketotic hyperglycinemia, type III (NKH3) HHH class III Deficiency of ornithine translocase class III Deficiency of MTHFD1 DEHUPA class III Pyruvate dehydrogenase deficiency;Leigh syndrome class III Pyruvate dehydrogenase deficiency POLG class III Progressive external ophthalmoplegia with mitochondrial DNA deletions (PEO); Involved in male infertility (MI)
Diseases & Conditions Acidemia, Propionic New propionic acidemia is a rare metabolic disorder characterizedby deficiency of propionyl CoA carboxylase, an enzyme involved in the http://www.stormloader.com/users/saibabaservs/Diseases & Conditions.htm
Extractions: Click on the health condition applicable for you to find the possibly suitable remedies with their characteristic symptoms and the modalities of patient. The modalities of patient are the conditions which makes the patient generally worse or better. The suitable remedy is the one which matches your symptoms and modalities most. As explained earlier, you need not have all the symptoms and modalities listed under the remedy. Once having identified, please ensure that you take only one dose of the 30c potency of the selected remedy because repetition without proper evaluation could either cause severe aggravation or waste the remedy. Please remember that this is not a substitute for proper consultation with a Homeopath. In case of any doubt, please consult a homeopath locally or E Mail us. ACTH Deficiency ACTH Deficiency is characterized by adrenal insufficiency symptoms such as weight loss, lack of appetite (anorexia), weakness, nausea, vomiting, and low blood pressure (hypotension). The pituitary hormone called "adrenocorticotropic hormone" (ACTH) is decreased or absent, and other cortisol and other steroid hormone levels in the blood are abnormally low. AIDS (Acquired Immune Deficiency Syndrome) AIDS is an infectious disorder that suppresses the normal function of the immune system. It is caused by the human immunodeficiency virus (HIV), which destroys the body's ability to fight infections. Specific cells of the immune system that are responsible for the proper response to infections (T cells) are destroyed by this virus. Characteristically a person infected with HIV initially experiences no symptoms for a variable period of time. This may be followed by the development of persistent generalized swelling of the lymph nodes (AIDS-related lymphadenopathy). Eventually most patients infected with HIV experience a syndrome of symptoms that includes excessive fatigue, weight loss, and/or skin rashes.
Indian Pediatrics - Editorial In this series methylmalonic acidemia was the commonest organic acidemia followedby propionic acidemia(3). In another, lactic acidemias were the commonest http://www.indianpediatrics.net/may2001/may-518-524.htm
Extractions: Revision accepted: November 2, 2000. Patients and Methods Results Inborn errors of metabolism were suspected in 231 patients. The diagnosis of organic acidemias was confirmed in 32 patients in whom results of GC-MS were available. In 24 patients, the mean age at presentation was 12.5 months (range 2-48 months). The remaining 8 were neonates and their clinical characteristics were studied as a separate group. There were 22 boys and 10 girls. Parental consanguinity was found in 11 (34.3%). Propionic acidemia and respiratory chain disorders seen in 19.3% each were the commonest organic acidemias diagnosed in this series followed by tricarboxylic acid cycle defects in 12.9% and methylmalonic acidemia in 9.6%. Rare disorders detected in this study were glutaric aciduria type I, holocarboxylase synthase deficiency, 3-methylglutaconic acid-uria type X, beta ketothiolase deficiency and carnitine-palmitoyltransferase deficiency with distal renal tubular acidosis (RTA).
Extractions: The disorders include a variety of conditions that lead to a chemical imbalance in the body. The disorders can lead to vomiting, problems with salt and water balance, developmental problems, or even coma and death. Some of the conditions have better treatments available at this time than others. The outcome of treatment can range from good to poor and depends partly on how much harm occurred before treatment took place. Some of the disorders have to do with the baby's problems in changing stored fat to a form (fatty acids) that can be used for energy. The names of these fatty acid disorders start with letters that describe the size of the fatty acids that occur in the chemical imbalance, for example S (short), L or LCH (long), VL (very long), or M (medium). The rate of the short and long types, taken together, is only one per 30,000 newborns and less is known about them than about the type of disorder with medium-size fatty acids, (MCAD). MCAD is now included in routine mandated screening. However, there is some proof that all types of these conditions may benefit from some of the same types of dietary management used for MCAD.
Extractions: AUTHOR INFORMATION Section 1 of 11 Authored by Olaf A Bodamer, MD, PhD , Assistant Professor, Department of Pediatrics, University of Vienna Children's Hospital, Vienna, Austria Coauthored by Brendan Lee, MD, PhD , Associate Professor, Department of Molecular and Human Genetics, Baylor College of Medicine Olaf A Bodamer, MD, PhD, is a member of the following medical societies: American Society of Human Genetics , and British Biochemical Society Edited by Christian J Renner, MD , Consulting Staff, University Hospital for Children and Adolescents, Erlangen, Germany; Robert Konop, PharmD , Clinical Assistant Professor, Department of Pharmacy, Section of Clinical Pharmacology, University of Minnesota; Leonard G Feld, MD, PhD , Chairman, Department of Pediatrics, Atlantic Health System, Professor, Department of Pediatrics, University of Medicine and Dentistry of New Jersey; Paul D Petry, DO, FACOP
ysåwãw¬È@iãÓEàªå¤O Unexpectedly high prevalence of the mild form of propionic acidemia in Japanpresence of a common mutation and possible clinical implications. http://www.kuhp.kyoto-u.ac.jp/~pediatrics/research_taisha.html
Extractions: Ë¡@iutj Íä@¹Fièj Ôc@õaiåw@¶j ì@[ñiåw@¶j åv¤ÆÑF Unexpectedly high prevalence of the mild form of propionic acidemia in Japan: presence of a common mutation and possible clinical implications. Hum Genet 2002 111. 161-165 Tohru Yorifuji, Masahiko Kawai, Junko Muroi, Mitsukazu Mamada, Keiji Kurokawa, Yosuke Shigematsu, Satoko Hirano, Nobuo Sakura, Ichiro Yoshida, Tomiko Kuhara, Fumio Endo, Hiroshi Mitsubuchi, Tatsutoshi Nakahata.
Propionic Acidemia The summary for this Korean page contains characters that cannot be correctly displayed in this language/character set. http://www.amc.seoul.kr/~amcmg/menu4/sub5_Gen5032.htm
Children's Hospital MRRC meningitis Tyrosine supplementation in patients with PKU Measurement of glycinein the CSF of patients with propionic acidemia Dextromethorphan treatment in http://web1.tch.harvard.edu/research/mrrc/training/childneuro/research_projects.
