61. THE LIGHTNING HYPERTEXT OF DISEASE. No. 5 15544 SYNONYMS Hyperglycinemia with ketosis and leukopenia, types I and IKetotic glycinemia, types I and I propionic acidemia, type I propionic acidemia http://www.pathinfo.com/cgi-bin/lh.cgi?tx=acidemia

62. Advances In Newborn Screening For Metabolic Disorders Infant with propionic acidemia and methylmalonic acidemia(MMA) are alsoat risk for basal ganglial injury during acute metabolic crises. http://203.69.179.10/taitam/pedia/journal/journal0724.htm

63. Neonatology On The Web: Inborn Errors Of Metabolism An important concept is the pleiotropic effects that some disorders have.A good example is the organic acid disorder propionic acidemia. http://www.neonatology.org/syllabus/iem.02.html

Neo Home New Clinical Computers ... Links Inborn Errors of Metabolism: Management wwilcox@mailgate.csmc.edu There are 5 important steps in the management of an IEM: I. Suspicion II. Evaluation III. Stabilization IV. Specific Treatment V. Genetic Counseling I. Suspicion An important key to diagnosing an IEM is thinking about the possibility in the first place. The symptoms and signs that should make you think about an IEM are common and nonspecific: Acute illness following a period of normalcy Lethargy and coma Hypotonia, seizures (especially if hard to control), intractable hiccups Apnea or respiratory distress Sepsis, particularly with E. coli Unusual odor Jaundice Dysmorphic features Organomegaly Positive family history or parental consanguinity II. Evaluation Once you suspect the possibility of an IEM, how should it be evaluated? There are 5 parts to the evaluation of an IEM: A. History, Family History B. Physical Examination C. Initial Screening Tests D. Advanced Screening Tests E. Definitive Diagnostic Tests A. History, Family History

64. Classic Neutropenic Syndromes - Neutropenia Support Association Inc. with neutropenia. These include isovaleric acidemia, propionic acidemia,methymalonic acidemia and hyerglycinemia. In vitro growth http://www.neutropenia.ca/about/classic_syndromes.html

What is Neutropenia Types of Neutropenia Autoimmune Leukopenia Classic Neutropenic Syndromes Chemotherapy and Neutropenia Diagnosis and Treatment Living With Neutropenia FAQ Classic Neutropenic Syndromes Biology of Stem Cells and Disorders of Hematopoiesis Infantile Genetic Agranulocytosis (Kostmann's Neutropenia) Initially described in Sweden by R. Kostmann in 1956, infantile genetic agranulocytosis is characterized by severe neutropenia at birth, frequent infections, increased risk of early death, and autosomal-recessive inheritance. This syndrome is one of the severe chronic neutropenic disorders and is mentioned separately only to highlight this well-described clinical entry. The comments regarding treatment and prognosis of severe chronic congenital and idiopathic neutropenias are applicable to Kostmann's neutropenia. Shwachman's Syndrome Neutropenia with Immune Deficits Myelokathexis Intramedullary destruction of neutrophils appears to be the pathophysiologic basis of myelokathexis. Patients demonstrate moderate neutropenia with morphologic abnormality of the neutrophilic nuclei. The circulating neutrophils are notable for their cytoplasmic vacuoles and for very thin nuclear strands connecting the nuclear lobes, while the bone marrow is hyperplastic with many degenerating hypersegmented granulocytes. Cartilage-Hair Hypoplasia Syndrome Short-limbed dwarfism, fine hair, moderate neutropenia, and increased risk of infection characterize cartilage-hair hypoplasia syndrome. This autosomal-recessive disorder is noted most prevalently in the Amish population. Impaired cellular immunity has been noted in some patients. Bone marrow transplantation has been used successfully in at least two patients with this syndrome.

65. Organic And Non-Organic Causes For Failure To Thrive Growth Organic acid disorders (maple syrup urine disease, propionic acidemia,methylmalonic acidemia, isovaleric acidemia, BMCC deficiency); http://www.nursingsociety.org/education/SN0002_add1.html

Organic and Non-Organic Causes for Failure to Thrive Growth deficiency related to inadequate weight gain is based on the standard growth charts of the National Centers for Health Statistics. Diagnosis is usually made in infancy and early childhood but can occur throughout childhood. FTT is a symptom and not a diagnosis. It is commonly divided into two categories: organic and non-organic. Organic is related to disease processes, congenital or genetic disorders such as cardiac, metabolic, central nervous system, pulmonary, gastrointestinal that result in the inhibition or alteration of enzyme and hormone secretion, digestion, absorption, and/or transport of nutrients to the tissues (acute infection, chronic disorders, malignancy, chronic infection, genetic/chromosomal disorders, prematurity, lead poisoning) and accounts for about 25% of FTT. In-born errors in metabolism contributing to FTT are defects in carbohydrate metabolism, amino acid metabolism, organic acid disorder. Non-organic FTT refers to psychosocial causes of growth failure coming from a variety of sources within the child's environment (inadequate caloric intake; socioeconomic status; family dysfunction; insufficient lactation; cultural beliefs; emotional deprivation; maternal drug use; mechanical problems like cleft palate, colic, difficult feeder, inexperienced mother, or a normal variant in structure such as small-boned/slight frame).

66. ÃÒªÇÔ·ÂÒÅÑ¡ØÁÒÃá¾·ÂìáË觻ÃÐà·Èä·Â :: The Roya organic acid disorders methylmalonicacidemia ? propionic acidemia 2. Glucose http://www.rcped-thai.org/act31.html

Proudly Supported by (Inherited Metabolic Disorders) 1). ¡ÒÇÔ¹Ô¨©Ñ·Óä´é¤è͹¢éÒ§ÂÒ¡ à¹×èͧ¨Ò¡áµèÅÐ⤾ºä´é¹éͤ×Í ¨Ñ´à»ç¹ rare disease ·ÓãËéá¾·ÂìäÁè¤è͹֡¶Ö§àÁ×è;º¼Ùé»èÇ ¨¹ÍÒ¡Ò¤è͹¢éÒ§ÁÒ¡ Ë×ÍàÁ×èÍä´éá¡⤷Õ辺ä´éºèÍÂÍÍ¡ä»áÅéÇ 2). ¡ÒµÇ¨·Ò§Ëéͧ»®ÔºÑµÔ¡Òâ´Â੾ÒСҵǨàÅ×Í´áÅлÑÊÊÒÇÐàº×éͧµé¹ ÁÑ¡äÁè¤èͺ͡⤪Ѵਹ ¡àÇé¹Ê觵Ǩ¾ÔàÈɺҧÍÂèÒ§àªè¹¡ÒÇÔà¤ÒÐËì plasma amino acid Ë×Í urine organic acid 3). ã¹·Ò¡á¡à¡Ô´«Öè§ÁÕâÍ¡Òʾºâ¤¡ÅØèÁ¹Õéä´éºèÍ ÁÑ¡¨ÐÁաҵͺʹͧµèÍ severe overwhelming illness ÍÂèÒ§ÁÕ¢Õ´¨Ó¡Ñ´ Ë×ÍáÊ´§ÍÒ¡ÒÍÂèÒ§ nonspecific àªè¹ poor feeding,lethargy à»ç¹µé¹ ⤾ѹ¸Ø¡ÁàÁµÒºÍÅÔ¡ ·ÕèàÕ¡ÇèÒ inherited metabolic disorders Ë×Í inborn errors of metabolism (IBEM) à»ç¹â¤¾Ñ¹¸Ø¡Á¡ÅØèÁ˹Ö觷Õèà¡Ô´¨Ò¡¤ÇÒÁ¼Ô´»¡µÔ¢Í§ÂÕ¹à´ÕèÂÇ ·ÕèÁÕ¤ÇÒÁ¼Ô´»¡µÔ¢Í§¡ÒàÕ§ÅӴѺ¢Í§àºÊË×ÍÊÒÂDNA ¡èÍãËéà¡Ô´¤ÇÒÁ¼Ô´»¡µÔ¢Í§ enzymes, receptors, transport proteins, structural proteins, Ë×ÍÊèǹ»Ð¡ÍºÍ×蹢ͧà«ÅÅìáÅéÇÊ觼ÅãËéà¡Ô´¤ÇÒÁ¼Ô´»¡µÔ¢Í§¢ºÇ¹¡ÒÂèÍÂÊÅÒ (catabolism) Ë×Í¢ºÇ¹¡ÒÊѧà¤ÒÐËì (anabolism) ÊÒÍÒËÒ ¡Òà»ÅÕè¹á»Å§·ÕèдѺ DNA ¢Í§â¤¡ÅØèÁ¹ÕéÍÒ¨à¡Ô´¨Ò¡¡Ò¡ÅÒ¾ѹ¸Øì¢Í§ÂÕ¹·ÕèÊéÒ§ enzyme Ë×ÍÂÕ¹·ÕèÊéÒ§ÊҤǺ¤ØÁË×ÍÊè§àÊÔÁ¡Ò·Ó§Ò¹¢Í§ enzyme àªè¹ cofactor ¡Ò·Ó§Ò¹·Õè¼Ô´»¡µÔ¢Í§ enzyme ¨Ð·ÓãËéà¡Ô´¡Ò¤Ñ觢ͧÊÒµÑ駵é¹áÅСҢҴ¢Í§¼ÅÔµÀѳ±ìÊ觼ÅãËé¡Ò·Ó§Ò¹¢Í§à«ÅÅì¼Ô´»¡µÔáÅÐà¡Ô´ÍÒ¡Ò·Ò§¤ÅÔ¹Ô¡¢Öé¹

67. Newborn cycle disorders. The organic acidemia disorders include isovaleric acidemia,methylmalonic acidemia and propionic acidemia. The urea http://www.odh.state.oh.us/New/NRls/02news2.htm

For immediate release January 31, 2002 ODH expands newborn screening to add five new disorder COLUMBUS – As of today, Ohio newborns will be screened for 12 disorders before leaving the hospital. The Ohio Department of Health (ODH) has added five new disorders to the seven previously covered in the state’s newborn screening panel. "Finding these problems early is key," said ODH Director J. Nick Baird, M.D. "Identifying these disorders in the infant's first few days of life, when they are treatable, can help prevent serious complications." By adding the five disorders, ODH is following the recommendations of the Ohio Newborn Screening Advisory Committee, comprised of experts in the fields of pediatric endocrinology, metabolism, genetics and other health specialties. Newborn screening has been recognized as one of the 50 most successful public health programs of the 20 th century, Baird said. ODH has had a newborn screening program since 1965. The new tests screen for three organic acidemia disorders and two urea cycle disorders. The organic acidemia disorders include isovaleric acidemia, methylmalonic acidemia and propionic acidemia. The urea cycle disorders are citrullinemia and argininosuccinic aciduria.

68. Browsing Health Conditions And Diseases Genetic Disorders Browse Health Conditions and Diseases Genetic Disorders propionic acidemia Top Health Conditions and Diseases Genetic Disorders propionic acidemia. http://www.uksprite.com/search/search/Health/Conditions_and_Diseases/Genetic_Dis

69. Publications Mutations affecting the bb homomeric interaction in propionic acidemia an approachtowards the determination of the b-PCC functional domains. J. Inher. http://www.uphs.upenn.edu/ifem/publicat.htm

Academic Year 1995 - 1996 Academic Year 1996 - 1997 Academic Year 1997 - 1998 Academic Year 1998 - 1999 ... Academic Year 2000 - 2001 ORIGINAL RESEARCH Abraham, V., M.L. Chou, P. George, P. Pooler, A. Zaman, R.C. Savani, M. Koval. Heterocellular communication between alveolar epithelial cells . Amer. J. Phys. (Lung Cell and Mol. Biol.), 280:L1085-L1093. Al-Mehdi, A.B., C. Song, K. Tozawa, A.B. Fisher. Ca -and phosphatidylinositol 3-kinase-dependent nitric oxide generation in lung endothelial cells in situ with ischemia . J. Biol. Chem., 275:39807-39810, 2000. Atochin, D.A., D. Fisher, I.T. Demchenko, S.R. Thom. Neutrophil sequestration and the effect of hyperbaric oxygen in a rat model of temporary middle cerebral artery occlusion . Undersea and Hyperbaric Medicine, 27:185-190, 2001. *Baireddy, V.R., M.K. White, D.S. Strayer. Natural protection from apoptosis by surfactant protein-A in type-II pneumocytes . Exp. Cell. Research, 263:183-192, 2001. Bdeir, K., J.C. Murciano, J. Tomaszewski, L. Koniaris, J. Martinez, D.B. Cines, V.R. Muzykantov, A.A. Higazi. Urokinase mediates fibrinolysis in the pulmonary vasculature.

70. NewScreen - Disorders Tested For In NewScreen propionic acidemia (PA) Acute onset Late onset. Fatty Acid Oxidation DisordersCarnitine/Acylcarnitine Translocase Deficiency (TRANSLOCASE); http://www.newscreentest.com/aboutnewscreen/disorders_tested.htm

About NewScreen Benefits How does it work? Disorders Screened ... Cord Blood Banking DISORDERS DETECTABLE BY NewScreen(tm) PROGRAM Disorders Detected by MS/MS Technology: ACYLCARNITINE PROFILE Organic Acid Disorders 3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency (HMG) Glutaric Acidemia-Type I (GA 1) Isobutyryl-CoA dehydrogenase Deficiency Isovaleric Acidemia (IVA) Acute Onset Chronic 2-Methylbutryrl-CoA Dehydrogenase Deficiency 3-Methylcrotonyl-CoA Carboxylase Deficiency (3MCC Deficiency) 3-Methylglutaconyl-CoA Hydratase Deficiency Methylmalonic Acidemia (MMA) Methylmalonyl-CoA Mutase Deficiency Methylmalonyl-CoA Mutase Deficiency + Maternal Vitamin B Deficiency Some Adenosylcobalamin Synthesis Defects Mitchondrial Acetoacetyl-CoA Thiolase Deficiency (3-Ketothiolase Def.) Multiple CoA Carboxylase Deficiency Propionic Acidemia (PA) Acute onset Late onset Fatty Acid Oxidation Disorders Carnitine/Acylcarnitine Translocase Deficiency (TRANSLOCASE) 3-Hydroxy Long Chain Acyl-CoA Dehydrogenase Deficiency (LCHAD) Medium Chain Acyl-CoA Dehydrogenase Deficiency (MCAD) Multiple Acyl-CoA Dehydrogenase Deficiency (MADD or Glutaric Acidemia-Type II) Neonatal Carnitine Palmitoyl Transferase Deficiency-Type II (CPT-II) Short Chain Acyl-CoA Dehydrogenase Deficiency (SCAD) Short Chain Hydroxy Acyl-CoA Dehydrogenase Deficiency (SCHAD) Trifunctional Protein Deficiency (TFP Deficiency) Very Long Chain Acyl-CoA Dehydrogenase Deficiency (VLCAD)

71. AA Disorders Diagnosed By MSMS propionic acidemia (PA). Isovaleric Acidemia (IVA). For example, to distinguishbetween methylmalonic acidemia and propionic acidemia. http://rc.kfshrc.edu.sa/BMR/sections/msl/AA Dis Diagnosed by MSMS.html

Disorders Identified by Tandem Mass Spectrometry-Based Screening for Acylcarnitines and Amino Acids in Blood Spots: Organic Acids Disorders: Methylmalonic Acidemia (MMA; different types) Propionic Acidemia (PA) Isovaleric Acidemia (IVA) Glutaric Acidemia type 1 (GA-I) Multiple-CoA Carboxylase def. (MCD) 3-Hydroxy-3-methylglutaryl- CoA Lyase def. (HMG) 3-ketothiolase def. (BKT) Fatty Acid Oxidation Defects: Short-Chain acyl-CoA dehydrogenase def. (SCAD) Ethylmalonic Aciduria (EMA) Medium-Chain Acyl-CoA Dehydrogenase Deficiency (MCAD) Long (or very long)-Chain Acyl-CoA Dehydrogenase Deficiency (LCAD or VLCAD) 3-Hydroxy-long-Chain Acyl-CoA Dehydrogenase Deficiency (LCHAD) Glutaric acidemia Type 2 (GA-II; MADD) Amino Acids Disorders: Phenylketonuria/ Hyperphenylalaninemia Maple syrup urine disease (MSUD) Homocystinuria/ Hypermethioninemia Hypomethioninemia associated with abnormal B12 metabolism Pyroglutamic aciduria Argininosuccinic Synthetase Def. (Citrullinemia) Argininosuccinase Def. (Argininosuccinic Aciduria) Hyperprolinemia Tyrosinemia type 1 Tyrosinemia type 2 Nonketotic Hyperglycinemia The diseases listed above are only those were actual cases has been detected via this technique in our unit. There is potential for others, for which we are still in the process of establishing. As to be expected, the power of the test is not the same for all the diseases listed, and therefore additional confirmation is needed by GC/MS for urine organic acids or other methods. For example, to distinguish between methylmalonic acidemia and propionic acidemia. Also, a special assay for succinylacetone in urine for diagnosis of tyrosinemia type 1, and CSF analysis by tandem MS for hyperglycinemia, and others.

72. Organic Acidemias They include maple syrup urine disease (MSUD), propionic acidemia, methylmalonicacidemia (MMA), isovaleric acidemia, biotinunresponsive 3-methylcrotonyl-CoA http://www.csmd.ca/acidemias.htm

Organic Acidemias Home Up Phenylketonuria Galactosemia ... Mitochondrial Disease [ Organic Acidemias ] Hereditary Tyrosinemia The term "organic acidemia" (OA) applies to a group of disorders characterized by the excretion of non-amino organic acids in urine. Most result from dysfunction, usually because of deficient enzyme activity, of a specific step in amino acid catabolism. The majority of the classical organic acid disorders result from abnormal amino acid catabolism of branched chain amino acids or lysine. They include 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). A child affected with an OA is usually well at birth and for the first few days of life. The usual signs of an OA include vomiting, poor feeding, neurologic symptoms such as seizures and abnormal tone, and lethargy progressing to coma. A child's outcome is enhanced by diagnosis in the first ten days of life. In the older child or adolescent, variant forms of the OAs can present as loss of intellectual function, ataxia or other focal neurologic signs, Reye syndrome, recurrent keto-acidosis, or psychiatric symptoms. www.oaanews.org

73. Laboratório De Psifarmacologia E Neuroquímica The effects of methylmalonic (MMA) and propionic acid (PPA), metabolites that accumulatein methylmalonic and propionic acidemia respectively, on 3Hglutamate http://www.ufsm.br/psicofarmacologia/abstract.html

Intrahippocampal GMP administration improves inhibitory avoidance performance through GABAergic and glutamatergic mechanisms in rats Abstract Guanidino compounds play specific physiological and pathological roles in the central nervous system. We investigated the effect of immediately post-training intrahippocampal infusion of GMP (a guanidino compound) on the inhibitory avoidance learning paradigm of rats. Bilateral intrahippocampal microinjection of GMP (0-30 nmol) caused a dose-dependent increase in test step-down latencies which was completely reversed by intrahippocampal co-administration of muscimol or baclofen (GABA agonists) or preadministration (15 min. pre-training, i.p.) of MK-801 (an NMDA antagonist). These results provide evidence for a participation of GABA and NMDA receptors in the GMP-induced increase in the test step-down latencies. GMP reverses the facilitatory effect of glutamate on inhibitory avoidance task in rats Abstract Previous studies have demonstrated that posttraining intrahippocampal glutamate administration improves inhibitory avoidance task performance in rats. Antagonism of glutamate agonist actions by guanine nucleotides has been shown at the molecular and behavioral level. In the present investigation we demonstrate that intrahippocampal co-administration of GMP (guanosine 5'-monophosphate) reverses the facilitatory effect of glutamate on the inhibitory avoidance learning paradigm and inhibits [ H]glutamate binding in hippocampal synaptic plasma membranes. These results suggest that guanine nucleotides may modulate glutamate actions.

74. À¯Àü¼º´ë»çÁúȯ Ketotic hyperglycinemia? propionic acidemia, methyl malonic acidemia, isovalericacidemia? ?-ketothiolase ? hyperglycinemia. http://www.dnai.co.kr/sangsik/cont_sang_07_24.htm

¿¹¸¦ µé¾î glucocerebrosidase¶ó´Â È¿¼ÒÀÇ ¼±µÀÌ»óÀÎ °í¼Å(Gaucher)º´¿¡¼­µµ À¯¾Æ±â¿¡ ¹ßÁõÇÏ¿© °£ºñÁ¾´ë¿Í ½Å°æÁõ»óÀÌ ³ªÅ¸³ª 2¼¼°æ¿¡ »ç¸ÁÇÏ´Â ¿µ¾ÆÇü, À¯¾Æ±â¿¡ °£ºñÁ¾´ë¸¦ µ¿¹ÝÇÏÁö¸¸ ½Å°æ Áõ»óÀÇ ÁøÇàÀº ¿µ¾ÆÇüº¸´Ù ¼­¼­È÷ ÁøÇàµÇ¾î Çе¿±â °¡±îÀ̱îÁö »ýÁ¸ÇÏ´Â ¼Ò¾ÆÇü, ¿µ¾Æ±â¿¡ °£ºñÁ¾´ë·Î ¹ßÁõÇÏÁö¸¸ ½Å°æÁõ»óÀÌ ³ªÅ¸³ªÁö ¾Ê¾Æ »ý¸í¿¡ ´ëÇÑ ¿¹ÈÄ°¡ ¾çÈ£ÇÑ ¼ºÀÎÇü µî 3°¡ÁöÇüÀÌ ÀÖ´Ù. ÀÌ¿Í °°ÀÌ 1°¡ÁöÀÇ È¿¼Ò À̻󿡼­µµ ¿©·¯ Á¾·ùÀÇ º´ÇüÀÌ ÀÖ´Â ÀÌÀ¯´Â glucocerebrosidase¶ó´Â È¿¼ÒÀÇ ±¸Á¶³ª »ý¼ºÀ» Áö¹èÇÏ´Â À¯ÀüÀÚ¿¡ ÀÇÇØ Æ¯ÀÌÇÑ º¯ÀÌ°¡ ³ªÅ¸³ª±â ¶§¹®ÀÌ´Ù. ÀÌ·± À¯ÀüÀû ÀÌÁú¼ºÀº Æä´ÒÄÉÅæ´¢Áõ(phenylketonuria)¿¡¼­µµ º¼ ¼ö À־ Ç÷Áß Æä´Ò¾Ë¶ó´ÑÀÌ Á¤»óÀÇ 10-60¹è±îÁö »ó½ÂÇÏ°í, ¹æÄ¡½´Â ÁßÁõÀÇ Áö´ÉÀå¾Ö¸¦ Ê·¡ÇÏ´Â °íÀüÀû Æä´ÒÄÉÅæ´¢Áõ°ú Ç÷Áß Æä´Ò¾Ë¶ó´Ñ(phenylalanine)ÀÌ Á¤»óÀÇ 10¹è ÀÌÇϷμ­, ¹æÄ¡ÇÏ´õ¶óµµ Áö´ÉÀúÇÏ°¡ ¿ÀÁö ¾Ê´Â °æÁõÀÇ Æä´ÒÄÉÅæ´¢Áõ(°íÆä´Ò¾Ë¶ó´ÑÇ÷Áõ)ÀÌ ÀÖ´Ù. 1) Æä´ÒÄÉÅæ´¢Áõ(phenylketonuria, PKU) Æä´ÒÄÉÅæ´¢ÁõÀº ŸÀ̷νÅ(tyrosine)À» Àüȯ½Å°´Â È¿¼ÒÀÎ Æä´Ò¾Ë¶ó´Ñ °¡¼öºÐÇØÈ¿¼Ò(phenyl- alanine hydroxylase)ÀÇ È°¼ºÀÌ ¼±µÀûÀ¸·Î ÀúÇϵǾî Àֱ⠶§¹®¿¡ Æä´Ò¾Ë¶ó´Ñ°ú ±× ´ë»ç»ê¹°ÀÌ àÀûµÇ¾î Áö´É Àå¾Ö, ´ã°¥»ö ¸ð¹ß, ÇǺÎÀÇ »ö¼Ò °áÇÌÀ» Ê·¡ÇÏ´Â »ó¿°»ö¼ ¿­¼º À¯Àü¼º ÁúȯÀÌ´Ù. Æä´Ò¾Ë¶ó´Ñ °¡¼öºÐÇØÈ¿¼ÒÀÇ À¯ÀüÀÚ´Â 12¹ø ¿°»ö¼ÀÇ Àå¿Ï(q)¿¡ À§Ä¡ÇÏ°í ÀÖ´Ù. ¹ß»ýºóµµ´Â ¹Ì±¹¿¡¼­´Â 1/14,000ÀÌ°í ÀϺ»¿¡¼­´Â 1/75,000 Á¤µµÀÌ´Ù. ±¸Åä, ½ÀÁø, ´ã°¥»ö ¸ð¹ß°ú Èò ÇǺλö µîÀÇ Æ¯Â¡ÀÌ ¿µ¾Æ±â¿¡ ³ªÅ¸³ª¸ç, Á¤½Å¿îµ¿ ¹ß´ÞÀÌ ½ÉÇÏ°Ô Áö¿¬µÇ¸ç, ÀϺο¡¼­´Â °æ·ÀÌ ³ªÅ¸³ª±âµµ ÇÑ´Ù. ȯÀÚÀÇ ¶¡°ú ¼Òº¯¿¡¼­ Áã¿ÀÁÜ ³¿»õ°¡ ³ª´Â °ÍÀÌ Æ¯Â¡À̸ç, »ýÈÄ 1³â À̳»¿¡ Ä¡·áÇÏÁö ¾ÊÀ¸¸é IQ°¡ 50ÀÌÇÏ·Î ÀúÇϵȴÙ. ±×·¯³ª »ýÈÄ 1°³¿ù À̳»¿¡ Ä¡·á¸¦ °³½Çϸé ÀÌ¿Í °°Àº Áõ»óÀº ³ªÅ¸³ªÁö ¾Ê´Â´Ù.

75. Quick Reference List Of Conditions Methylmalonic acidemia M. Multiple CoA Carboxylase Deficiency V. Phenylketonuria(PKU) M. propionic acidemia M. Short Chain AcylCoA Dehydrogenase Deficiency V. http://newborn.chmcc.org/quick_reference_list_of_conditio.htm

Quick Reference List of Conditions M= Mandated in Ohio V= Voluntary in Ohio O= Other (available through commercial labs or other states) Argininemia V Argininosuccinate lyase defiency M Biotinidase deficiency O Carnitine/Acylcarnitine Translocase Deficiency V Carnitine Palmitoyl Transferase Deficiency Type II V Citrullinemia M Congenital adrenal hyperplasia O Congenital hypothyroidism M Cystic fibrosis O Galactosemia M Glutaric Acidemia Type I V Glutaric Acidemia Type II V Hemoglobinopathy M Homocystinuria M 3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency V Hypermethioninemia V Isobutyryl-CoA Dehydrogenase Deficiency V Isovaleric acidemia M 3-Ketothiolase Deficiency V Long Chain Hydroxyacyl-CoA Dehydrogenase Deficiency V Maple syrup urine disease (MSUD) M Medium chain acyl CoA dehydrogenase deficiency (MCADD) M 2-Methylbutyryl-CoA Dehydrogenase Deficiency V 3-Methylcrotonyl-CoA Carboxylase Deficiency V Methylmalonic acidemia M Multiple CoA Carboxylase Deficiency V Phenylketonuria (PKU) M Propionic acidemia M Short Chain Acyl-CoA Dehydrogenase Deficiency V Trifunctional Protein Deficiency V Very Long Chain Acyl-CoA Dehydrogenase Deficiency V

76. The Newborn Screening Disorders Back to top. Organic Acidemias. The newborn screen tests for these seven organicacidemias propionic acidemia (PA). Glutaric Acidemia Type I (GAI). http://www.dhfs.state.wi.us/DPH_BFCH/Newborn_Screen/NBSdisorders.htm

Licensing Reference Center Search Family Health Home ... Staff Contacts The Newborn Screening Disorders This page will describe the disorders tested for by the newborn screen. If you have additional questions about these disorders, please ask your health care provider or go to additional information Biotinidase Deficiency Congenital Adrenal Hyperplasia (CAH) ... Fatty Acid Oxidation Disorders Biotinidase Deficiency Back to top Congenital Adrenal Hyperplasia ( CAH) Back to top Congenital Hypothyroidism Back to top Cystic Fibrosis (CF) Cystic fibrosis causes thick mucus to collect in the lungs and intestines. Mucus prevents proper breathing and can cause poor digestion of food. Lung infections and digestive problems will need medical treatment. A baby with CF will need regular medical care and a good diet. Back to top Galactosemia A baby with this problem cannot digest the sugar galactose. If not treated, galactose will build up in the body causing damage to the eyes, liver and brain. Babies with galactosemia must not have foods containing galactose or lactose, including breast milk and some infant formulas. Treatment includes a special diet and regular medical care.

77. Conference Summary brain” for information. He spoke to us about his knowledge on treatingpropionic acidemia and Methylmalonic Acidemia. Since his time http://www.pku-allieddisorders.org/conference.htm

Home Research Resources Disorders ... FAQ Fun Conference Facts We had approximately 325+ people attend. Disorders registered: 3MCC, MSUD, PKU, GA,2 MCAD, GA1, Citrullinemia, Carnatine Deficiency Undiagnosed, PPA, MMA, LCHAD, SCHAD/SCAD, TYR, IVA, VLCAD, HCU, CblC, GALT, and CPTII Attending States : AZ, CA, CT, DE, FL, GA, IA, IL, IN, KY, LA, MA, MD, ME, MI, MN, MO, MS, MT, NC, NH, NJ, NY, OH, PA, TN, TX, VA, WA, and WI. Families Attending from the following Countries : US, Iran, Canada, Australia, Brazi,l Germany, Speakers Attending from : US, Germany, Saudi, Arabia, Ireland Organic Acidemia Association Conference Summary by Kathy Stagni, Saturday morning brought all the support groups together for one general session on subjects such as self-esteem issues, prevalence of ADHD in metabolic disorders, Federal legislation for metabolic formulas, obtaining metabolic formula reimbursements, the Scott C. Foster Metabolic Research Fund, Gene Therapy update and lastly, a professional panel of most of our speakers answering questions from the audience. NUCDF Member and Citrullinemia Conference Summary by Theresa Birlson, Mom

78. Disorders Mitochondrial AcetoacetylCoa Thiolase Deficiency; Multiple CoA CarboxylaseDeficiency propionic acidemia (PPA). visit oaanews.org for more information. http://www.pku-allieddisorders.org/allieddisorders.htm

Homocystinuria MSUD Organic Acidemias Phenylketonuria Tyrosinemia Urea Cycle Disorders All of the disorders listed above have a common thread. Each disorder is a metabolic disorder requiring a low protein diet along with strict medical supervision. Together we can make a difference as we reach out and across to one another For Links and support group information, Please click here For low protein recipes see this site: www.lowprotein.com Mansfield, MA 02048 Home Research Resources Disorders ... Disorders Homocystinuria Homocystinuria is a metabolic disorder caused by a defective enzyme (cystathionine synthetase) needed to digest the amino acid in protein called methionine. Once diagnosed, the initial treatment would be changing the baby formula to a special medical formula, which does not contain methionine. Along with the medical formula the child will maintain a low protein/low methionine diet for life. Some of the more dominant systems of HCU include mental retardation, ectopia lentis (dislocation of the lenses of the eye), osteoporosis, delays in reaching developmental milestones, the formation of blood clots that may lead to life-threatening complications.

79. Genetics Conditions propionic acidemia. Our Services\Metabolic Methylmalonic acidemia. Sickle CellDisease. Our Services\Newborn Screening Sickle Cell. Skeletal Dysplasias. http://www.dor.kaiser.org/genetics/GeneticsConditions/GeneticsConditionsMain.htm

Genetic Conditions Listed here are all of the conditions currently discussed in the Kaiser Oakland Genetics web site. Click on any of them to find out more information. Condition Location in Web Site Abdominal Wall Defects Achondroplasia Amino Acid Disorder Anencephaly Apert Syndrome Breast Cancer CHARGE Association Choroid Plexus Cysts Cleft Lip Cleft Palate Colon Cancer Congenital hypothyroidism Craniofacial conditions Craniosynostosis Crouzon Syndrome Down Syndrome Dwarfism Echogenic bowel Familial Combined Hyperlipidemia (FCH) Familial Hypercholesterolemia (FH) Familial Hypertriglyceridemia Fragile X GAL Newborn Screening: Galactosemia Galactosemia Goldenhar Syndrome Hemifacial Microsomia Hemoglobinopathies Hepatitis Homocystinuria Hypothyroidism Klinefelter Syndrome Lipid Disorders Maple Syrup Urine Disease Methylmalonic acidemia MMA MSUD Neural Tube Defects XAFP: neural tube defects Ovarian Cancer PA Pfeiffer Syndrome Pierre Robin Sequence/Syndrome PKU Propionic acidemia Sickle Cell Disease Skeletal Dysplasias Spina Bifida Syphilis Treacher Collins Syndrome Triple X Syndrome Trisomy 13 Trisomy 18 Turner's Syndrome XXX Syndrome XXY Syndrome XYY Syndrome

80. National PKU News: Reimbursement For Medical Foods For Inborn Errors Of Metaboli such as phenylketonuria, maternal phenylketonuria, maple syrup urine disease, homocystinuria,methylmalonic acidemia, propionic acidemia, isovaleric acidemia http://web47.radiant.net/~pkunews/rights/AAPC.htm

Reimbursement for Medical Foods for Inborn Errors of Metabolism Statement by the American Academy of Pediatrics Committee on Nutrition This is a statement from the American Academy of Pediatrics, supporting reimbursement for medical foods (formulas) used for treatment of inborn errors of metabolism. Potential uses of this statement: advocating for legislation and/or convincing insurance carriers to cover medical foods. The recommendations in this policy statement do not indicate an exclusive course of treatment or procedure to be followed. Variations, taking into account individual circumstances, may be appropriate. Inborn errors of amino acid metabolism such as phenylketonuria, maternal phenylketonuria, maple syrup urine disease, homocystinuria, methylmalonic acidemia, propionic acidemia, isovaleric acidemia and other disorders of leucine metabolism, glutaric acidemia type I and tyrosinemia types I and II, and urea cycle disorders are rare diseases that are treatable by diet. Treatment might include the restriction of one or more amino acids, the restriction of total nitrogen, or the supplementation of specific substances. Untreated, these diseases culminate in severe mental retardation or death. Once diagnosis is confirmed, treatment of amino acid and urea cycle disorders must be carefully monitored by a physician with expertise in metabolic diseases. Special medical foods, commercially available, are indispensable for the active, ongoing treatment of diagnosed amino acid and urea cycle disorders. Special medical foods would, if used as the sole dietary source, represent a hazard to affected and healthy children. US Public Law (Publ L) 100-290 defines the term medical food as ". . . a food which is formulated to be consumed or administered enterally under the supervision of a physician and which is intended for the specific dietary management of a disease or condition for which distinctive nutritional requirements, based on recognized scientific principles, are established by medical evaluation." (Ref. 1)

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