41. 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

Organic Acidemia: Background Mark Korson, M.D. Metabolic Clinic (Genetic Service), Children’s 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.

42. 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

Propionic Acidemia Websites from Linkspider UK Keyword: Propionic Acidemia Linkspider UK Directory Propionic Acidemia Search for Directory Tree: Top Health Conditions and Diseases Genetic Disorders : Propionic Acidemia (4) Add URL Advertise Here! Personalize Amazon ... Weather 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.

43. 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

44. Acidemia Propionic ACIDEMIA, PROPIONIC. (See ACIDEMIA, ORGANIC). Home HotLines ResourcesPrinted Guide Child Care for the '90's Links. © 1997 ABC F Press. http://www.childhealthinfo.com/a/acidemia-propionic.htm

ACIDEMIA, PROPIONIC (See ACIDEMIA, ORGANIC) [Home] [Printed Guide] [Child Care for the '90's] [Links] ... MoreInfo@ChildHealthInfo.com

45. $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

$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

46. 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/

Institute of Genetics, National Yang Ming University Kwang-Jen Hsiao, Professor ¿½ ¼s ¤¯ ±Ð ±Â Ph.D. in Biomedical Sciences, Mount Sinai School of Medicine, City University of New York Telephone: 886-2-2826-7089 (Institue of Genetics) 886-2-2826-7260 (YMGC) 886-2-2875-7401 ( VGH ) Fax: 886-2-2826-4930 (Institute of Genetics) 886-2-2825-0305 (YMGC) 886-2-2873-3517 ( VGH ) e-mail: hsiao@mail.pmf.org.tw 1978 ¯¬ù¥«¥ß¤j¾Ç ¥Íª«Âå¾Ç³Õ¤h ±Ð¾Ç¬ã¨s³¡ ­Ý¥ô¬ã¨s­û °ê¥ß¶§©ú¤j¾Ç ¿ò¶Ç¬ã¨s©Ò ºî¦X·~°È³B ³Bªø 1998 - ¨´¤µ °ê¥ß¶§©ú¤j¾Ç Âå¾Ç¥Íª«§Þ³N¬ã¨s©Ò ¦X¸u±Ð±Â 2000.5 - ¨´¤µ °ê¥ß¶§©ú¤j¾Ç °ò¦]Åé¬ã¨s¤¤¤ß ¥D¥ô 2000.8 - ¨´¤µ °ê¥ß¶§©ú¤j¾Ç ¿ò¶Ç¬ã¨s©Ò 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.

47. SENATE BILL 166 P.N. 172 mutase deficiency). 17 (20) propionic acidemia (propionic acidemia(PPA) or 18 propionylCoA carboxylase (PCC) deficiency). 19 (21 http://www.legis.state.pa.us/WU01/LI/BI/BT/2001/0/SB0166P0172.HTM

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.

48. 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

CATEGORIES ADD A LINK ADVERTISE CONTACT US ... Genetic Disorders Propionic Acidemia Conditions and Diseases:Genetic Disorders:Propionic Acidemia Cadence's Story The story of one little girl's life with the genetic disease Propionic Acidemia. wvnvm.wvnet.edu/~ncb00582 eMedicine An in depth look at Propionic acidemia. emedicine.com/NEURO/topic577.htm NORD - Acidemia, Propionic Includes the synonyms, a general discussion and further resources. stepstn.com/cgi-win/nord.exe?proc=Redir... Pediatric Database Offers a definition of propionic acidemia as well as the epidemiology, pathogenesis, clinical features, investigations and management. icondata.com/health/pedbase/files/PROPI... CATEGORIES ADD A LINK ADVERTISE CONTACT US ... FORUMS

49. 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

Web Table B. Yeast orthologs to known human mitochondrial disease genes 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)

50. 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

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.

51. 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

Home Past Issue About IP About IAP ... Subscription Brief Reports Indian Pediatrics 2001; 38: 518-524 Clinical Features of Organic Acidemias: Experience at a Tertiary Care Center in Mumbai Mamta N. Muranjan Pratima Kondurkar From the Genetics Division, Department of Pediatrics, K.E.M. Hospital, Parel, Mumbai 400 012, India. Correspondence to: Dr. M.N. Muranjan, 3rd Floor, 16-B, Naushir Bharucha Marg, Tardeo, Mumbai 400 007, India. E-mail: drsuji@vsnl.com Manuscript received: July 4, 2000; Initial review completed: August 1, 2000; 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).

52. New England Newborn Screening Program - Pilot Studies #2 - UMass Medical School toxic. Examples are propionic acidemia, or methylmalonic acidemia, isovalericacidemia and glutaric acidemias I and type II. Vomiting http://www.umassmed.edu/nbs/screenings/optional/pilot/pilot_2.cfm

directory contact us index Home ... What Parents Should Know Screening Programs Routine Optional List of Disorders Routine Optional Pilot Programs Pilot Study #1 Pilot Study #2 FAQ's Brochures ... newborn screening program : pilot study #2 Pilot Study #2 Newborn screening for a set of 19 additional metabolic disorders Can you tell me more about what is included? 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.

53. Methylmalonic Acidemia From Pediatrics / Genetics And Metabolic Disease CoA is derived from propionylCoA by the action of propionyl-CoA carboxylase, theenzyme that is deficient in patients with propionic acidemia (see Propionic http://author.emedicine.com/ped/topic1438.htm

eMedicine Journal Pediatrics Genetics And Metabolic Disease Methylmalonic Acidemia Synonyms, Key Words, and Related Terms: methylmalonic aciduria, MMA, methylmalonic acid Author Information Introduction Clinical Differentials ... Bibliography 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

54. y‹ž“s‘åŠwˆãŠw•”¬Ž™‰È@i‘ãŽÓE“à•ª”匤‹†ƒO 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

‚¨‘I‚щº‚³‚¢ ƒgƒbƒvƒy[ƒW ‹³Žöˆ¥ŽA ƒXƒ^ƒbƒtÐ‰î Œ¤‹†ƒOƒ‹[ƒvÐ‰î f—Oƒ‹[ƒvÐ‰î ŠO—ˆÐ‰î ‘¢ŒŒŠ²×–EˆÚA “ü‹ÇŽÒ•åW ‘åŠw‰@¶•åW ‰@“àŠw‹‰ ŠÖ˜A•a‰@ ƒŠƒ“ƒNW Š²×–EiŒŒ‰tE–ƉuE_ŒoES‘ŸjŒ¤‹†ƒOƒ‹[ƒv –ƉuEƒAƒŒƒ‹ƒM[Œ¤‹†ƒOƒ‹[ƒv ‘ãŽÓE“à•ª”匤‹†ƒOƒ‹[ƒv ˆË“¡@‹œiuŽtj ‰Íˆä@¹•Fi•Žèj ˜Ô“c@Œõ˜ai‘åŠw‰@¶j •ì@Œ[“ñi‘åŠw‰@¶j Žå—vŒ¤‹†‹ÆÑF 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. Parental origin of normal X chromosomes in Turner syndrome patients with various karyotypes: Implications for the mechanism leading to generation of a 45X karyotype. Am J Med Genet 2002 111 134-139. Uematsu A, Yorifuji T, Muroi J, Kawai M, Mamada M, Kaji M, Yamanaka C, Momoi T, Nakahata T. Analysis of the SRY gene in Turner syndrome patients with Y chromosomal material. J Med Genet (2001) 38, e4 Yorifuji, T., Muroi, J., Mamada, M., Uematsu, A., Kawai, M., Momoi, T., Kaji, M., Yamanaka, C., Nakahata, T.@

55. Organic Acidemia Association Deficiency; Glutaric Acidemia; Isovaleric Acidemia; Methylmalonic Acidemia; MultipleCoA Carboxylase Deficiency; propionic acidemia; 3Hydroxyisobutyric http://www.geneticalliance.org/Resources/displayorganization.html?orgname=Organi

56. Organic Acidemia Association Conditions Organic Acidemia 3MCC Acidemia propionic acidemia Isovaleric AcidemiaFatty Oxidation Disorders Methylmalonic Acidemia Glutaric Acidemia Type 1 http://www.geneticalliance.org/diseaseinfo/displayorganization.html?orgname=Orga

57. Open Directory - Health: Conditions And Diseases: Genetic Disorders: Propionic A Cadence's Story The story of one little girl's life with the genetic diseasepropionic acidemia. eMedicine - An in depth look at propionic acidemia. http://www.mptdo.com/Health/Conditions_and_Diseases/Genetic_Disorders/Propionic_

about dmoz add URL update URL become an editor ... help the entire directory only in Genetic_Disorders/Propionic_Acidemia Top Health Conditions and Diseases Genetic Disorders : Propionic Acidemia Description See also: Health: Conditions and Diseases: Rare Disorders Cadence's Story - The story of one little girl's life with the genetic disease Propionic Acidemia. 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. Propionic Acidemia " search on: All the Web AltaVista Deja Google ... Yahoo This category needs an editor Last update: 3:22 PT, Friday, August 24, 2001 - edit bfjrio Angebotsseiten: Reisen erotik

58. 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

ÇÁ·ÎÇÇ¿À´Ñ»êÇ÷Áõ (Propionic acidemia) ¹ß¸°, À̼ҷÎÀ̽Å, ¸ÞÄ¡¿À´Ñ, ½º·¹¿À´Ñ°ú °°Àº ¾Æ¹Ì³ë»êÀÇ ´ë»ç¿¡ °ü¿©ÇÏ´Â propionyl CoA carboxylase¶ó´Â È¿¼ÒÀÇ Àå¾Ö·Î ÇÁ·ÎÇÇ¿À´Ñ»êÀÌ àÀûµÇ¾î ³ú¼Õ»ó, Ç÷¾×ÀÇ »ê¼ºÈ­, ¾Ï¸ð´Ï¾ÆÀÇ Áõ°¡ µîÀ» Ê·¡ÇÕ´Ï´Ù. »ó¿°»ö¼¿­¼ºÀ¯ÀüÀ» ÇÏ¸ç ¹ß»ýºóµµ´Â 100,000¸íÁß ÇÑ ¸íÀÔ´Ï´Ù. ÇÁ·ÎÇÇ¿À´Ñ»êÇ÷ÁõÀº propionyl CoA carboxylase¶ó´Â È¿¼ÒÀÇ °á¼ÕÀÌ ÁÖ ¿øÀÎÀÔ´Ï´Ù. Propionyl CoA carboxylase È¿¼Ò´Â µÎ °³ÀÇ subunitÀ¸·Î ±¸¼ºµÇ¾î ÀÖ°í °¢°¢ÀÇ À¯ÀüÀÚÀ§´Â 3¹ø ¿°»ö¼ Àå¿Ï°ú 13¹ø ¿°»ö¼ Àå¿Ï¿¡ À§Ä¡Çϸç À̵é À¯ÀüÀÚÀÇ ¿©·¯ °¡Áö µ¹¿¬º¯ÀÌ¿¡ ÀÇÇØ ÀÌ È¿¼ÒÀÇ °á¼ÕÀÌ Ê·¡µË´Ï´Ù. Àå³» ¼¼±Õ¿¡ ÀÇÇÏ¿© ÇÁ·ÎÇÇ¿À´Ñ»êÀÌ »ý¼ºµÇ¹Ç·Î ³×¿À¸¶À̽ŵî Ç×»ýÁ¦ÀÇ °æ±¸ Åõ¿©°¡ ÇÊ¿äÇÏ°í, º¯ºñÀÇ Ä¡·á, L-carnitine(50-100 mg/kg/ÀÏ)°ú ¹ÙÀÌ¿Àƾ(10 mg/ÀÏ)ÀÌ È¿°úÀûÀÏ ¼ö ÀÖ½À´Ï´Ù.

59. 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.

return to Training Main Menu return to Clinical Fellowships in Child Neurology Menu Clinical Fellowships: Child Neurology: Resident Research Projects Undertaken During Elective Rotations Research projects undertaken during residency elective time in the recent past have included the following: Immunocytochemical characterization of oligodendrocyte development in human cerebral white matter Maturation-dependent vulnerability of oligodendrocytes to death induced by oxidative stress caused by glutathione depletion Severe Choreoathetosis Associated with Presumed Encephalitis: A Series of Five Cases Neuromyelitis optica: a case report with sequential MRI findings Patterns of malformation caused by LIS1 and XLIS (DCX) gene mutations Mutations in the PAK3 gene in nonsyndromic X-linked mental retardation Neurologic aspects of cyclosporin toxicity Neurologic manifestations of hemolytic uremic syndrome The role of brain MRI in the differential diagnosis of acute viral encephalitis and acute disseminated encephalomyelitis in children Myelin basic protein reactive TH2 T cells in acute disseminated encephalomyelitis Nerve growth factor activation of extracellular signal-regulated kinase and p38 mitogen-activated protein kinase pathways to stimulate CREB serine 133 phosphorylation

60. Organic Acidemia maple syrup urine disease (MSUD), propionic acidemia, methylmalonic acidemia (MMA),isovaleric acidemia, biotinunresponsive 3-methylcrotonyl-CoA carboxylase http://www.kumc.edu/gec/support/organic.html

Organic Acidemias maple syrup urine disease (MSUD), propionic acidemia, methylmalonic acidemia (MMA), isovaleric acidemia, biotin-unresponsive 3-methylcrotonyl-CoA carboxylase deficiency, 3-hydroxy-3-methylglutaryl-CoA (HMG-CoA) lyase deficiency, ketothiolase deficiency, and glutaric acidemia type I (GA I) Organic Acidemia Association 13210 35th Avenue North Plymouth, MN 55441 (new address Feb 1999) 612-559-1797 - voice 612-694-0017 - fax E-mail: OAANews@aol.com Web site: http://www.oaanews.org Contact: Kathy Stagni, Executive Director, e-mail: LeeKatMN@aol.com A Guide for the Family of the Child with Methylmalonic Acidemia a book for families. The Ross Metabolic Formula System, Columbus, OH. 1 800 986-8755. Describes MMA, the amino acids involved, as well as treatment. The second part of the book is dedicated to dietary management issues. Recommended by a metabolic nutritionist as very helpful to teach families about diet. Also See: Organic Acidemias Overview , GeneClinics National organizations information on genetic conditions or birth defects Online information , National Health Information Center (NHIC) Urea Cycle Conditions Metabolic Conditions To locate a genetic counselor or clinical geneticist in your area: Professional Genetics Societies Genetic clinics, centers, departments

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