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  • What are Organic Acidemias? | OAA
    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 Evaluation Once you suspect the possibility of an IEM how should it be evaluated There are 5 parts to the evaluation of an IEM History Family History The history largely focuses around the features that made you suspicious for an IEM The neonate will often be well for 24 hours or more then decompensate The slightly older infant may have had episodic problems associated with minor illnesses or may just have failure to thrive and developmental delay The family history is very important but often not taken Most IEM are autosomal recessive so there may have been siblings with similar illnesses or deaths from sepsis or SIDS The parents may be consanguineous or come from a genetic isolate such as a small village in Mexico There are also X linked and mitochondrial inherited IEM so a family history must include information about the mother s siblings their children etc A pedigree only containing nuclear family members is inadequate Physical Examination The physical exam of patients with IEM is usually normal except for nonspecific findings such as lethargy coma apnea or hyperpnea seizures hypotonia etc Physical findings that are important and will help to narrow the differential diagnosis include facial dysmorphism cataracts retinopathy structural brain anomalies hypertrophic or dilated cardiomyopathy hepatomegaly multicystic dysplastic kidneys myopathy An unusual odor can be particularly helpful in several disorders Odor Disorder musty phenylketonuria cabbage tyrosinemia maple syrup maple syrup urine disease sweaty feet isovaleric acidemia glutaric acidemia type II cat urine 3 methylcrotonyl CoA carboxylase and multiple carboxylase deficiencies Initial Screening Tests The initial evaluation of an acutely ill infant for an IEM should include CBC neutropenia is frequent in some organic acidemias Electrolytes ABG to evaluate for acidosis and anion gap Glucose hypoglycemia is a feature of many IEM Ammonia hyperammonemia is present in urea cycle abnormalities and some organic acidemias Rapidly flowing blood should be obtained and the sample placed on ice and hand carried to the lab The test should be done within 1 hour so the lab may need prior notification Uric acid if neurologic abnormalities are present low uric acid is suggestive for molybdenum cofactor deficiency Urinalysis the presence of ketones is unusual even in sick neonates and suggests an organic acidemia Clinitest for reducing substances should be performed but should be interpreted carefully because of a high false positive rate Older tests that may be useful include ferric chloride for ketoacids positive in phenylketonuria tyrosinemia maple syrup urine disease histidinemia alkaptonuria and in the presence of other substances such as acetoacetic acid salicylates phenothiazines antipyrin isoniazid and acetaminophen and a cyanide nitroprusside test for disulfides positive in cystinuria and homocystinuria Lactate pyruvate elevation of lactate is a frequent secondary finding in many IEM but there are primary lactic acidoses due to defects in energy metabolism The lactate pyruvate ratio normal

    Original URL path: http://www.oaanews.org/organic_acidemias.htm (2012-10-25)
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  • Contact the Organic Acidemia Association | OAA
    Lee Gould Bereaved Parent Grief Consultant Transforming loss into living again with faith hope and love The Compassionate Friends Website A national nonprofit self help support organization that offers friendship understanding and hope to bereaved parents grandparents and siblings HAND Helping After Neonatal Death Program volunteers help bereaved families by providing telephone support hospital visitations and support group staffing Memorials Sydney Adelaide Davies Anne Marie Jones Anna Verboven Toebes Vincent

    Original URL path: http://www.oaanews.org/memorials.htm (2012-10-25)
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  • Informational Websites | OAA
    A Guide to Diagnosis On line Mendelian Inheritance in Man OMIM National Institutes of Health NIH Carnitor Medication for Organic Acidemias Sigma Tau Pharmaceuticals Clinical Approach to Genetic Cardiomyopathy in Children USDA Nutrient Database for Standard Reference Family Village Society for Inherited Metabolic Disorders SIMD Society for the Study of Inborn Errors of Metabolism SSIEM General Clinical Research Center GCRC Coriell Institute for Medical Research Study Kennedy Krieger Institute Genetics

    Original URL path: http://www.oaanews.org/links_informational.htm (2012-10-25)
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  • Nutritional Websites | OAA
    Law State Laws on Formula Coverage Cambrooke Foods Website Insurance Legislation for Medically Prescribed Foods Low Protein Resources Spotlight on Dietary Fiber OAs by Keiko Ueda MPH RD LDN Applied Nutrition Cambrooke Foods Ener G Foods My Special Diet Dietary Specialties Low Protein Foods Glutino Low Protein Food Supplier in Canada Kingsmill Foods Canadian Low Protein Foods Company Liv N Well Low Protein Foods Lowprotein com Apples to Zucchini Low Protein Cookbook Maddy s L Low Protein Store PKU Perspectives Med Diet Rich Products Corporation Specialty Food Shop Supplier of Low Protein foods in Toronto Canada Taste Connections Low Protein Recipe Source Vance Foods DariFree Milk Alternatives Uncle Henry s PA Dutch Hand Made Pretzels Useful Website on Metabolic Nutrition AAP Policy for Reimbursement for Medical Foods for Inborn Errors of Metabolism About com on Nutrition Carnitine coQ10 Miracle Cures or Money Down the Drain Dr Greene Breastfeeding with a Metabolic Disorder Propionic Acidemia Formula Ingredients Comparison Charts Helping Families Deal with Metabolic Disorders Kids With Tubes parent ran support in Massachusetts Nutrition Data Analyzer Practical Nutritional Considerations by Keiko Ueda MPH RD LD The Oley Foundation non profit support for those who are tube fed Unifiber Zevex Inc Pumps

    Original URL path: http://www.oaanews.org/links_nutritional.htm (2012-10-25)
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  • Educational Websites | OAA
    Educators LD Online Dysgraphia Accommodations Modifications LD Online IEP Progress Report by Reed Martin Medicaid Programs for Each State American Academy of Pediatrics Music Therapy The Freudian Slip National Center for Secondary Education and Transition School Nurses and the Individuals with Disabilities Education Act IDEA School Nurses Using Assistive Personnel in School Health Services Special Ed Law Special Education Law Section 504 and IDEA UVa Special Education Web Site The Special Ed Advocate Wrightslaw Toolkit for Teaching and Assessing Students with Disabilities Wright s Law Special Ed Laws Advocacy Writing IEPs for Success General Disability Websites Abilitations Catalog Special Needs Equipment Ask the Experts About ADD ADHD CHADD Children Adults with ADHD Resources ChildsID com Medic Alert Jewerly Child ID Kits Exceptional Parent Magazine Family Voices Genetic Links Glossary of Acronyms Healthfinder HELLP Syndrome Birth Stories Learning to Advocate for Your Special Needs Child Make A Wish Foundation Medic Alert Medic Alert United Kingdom Mercy Medical Airlift Angel Flight Mitochondrial Myopathy An Energy Crisis in the Cells Transition and Estate Planning Information Guardianship Individuals with Mental Retardation The ARC Kid Source Online Estate Planning The Special Needs Trust Kids as Self Advocates Transition 101 NICHCY Transition Resources for Parents NICHCY

    Original URL path: http://www.oaanews.org/links_educational.htm (2012-10-25)
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  • Newborn Screening Websites | OAA
    kit Mayo Clinic Rochester MN Newborn screening National Newborn Screening Genetics Newborn Center March of Dimes Centers for Disease Control Prevention CDC Newborn Screening American College of Medical Genetics Newborn Screening Toward A Uniform Screening Panel and System Sudden Infant Death Syndrome SIDS Expanded Newborn Screening using Mass Spec Sudden Unexplained Death in Childhood SUDC Lily s Foundation Kennedy Krieger Institute Mass Spec Lab Newborn Screening Save Babies Through Screening Newborn Screening by Tandem Mass Spectrometry for Medium Chain Acyl CoA Dehydrogenase Deficiency A Cost Effectiveness Analysis Abstract of Article from Pediatrics Nov 2003 Minnesota Newborns At Risk Press Release March 25 2003 National Coordinating Center for the Genetics and Newborn Screening Regional Collaborative Groups http genes r us uthscsa edu resources genetics StatePages genetic region map htm In 2004 the Maternal and Child Health Bureau of the Health Resources and Services Administration MCHB HRSA Genetic Services Branch GSB awarded grants to establish seven Regional Genetic Service and Newborn Screening Collaborative Groups RCs and a National Coordinating Center NCC as part of on going efforts to improve the health of children and their families by promoting the translation of genetic medicine into public health and health care services The NCC

    Original URL path: http://www.oaanews.org/links_nbs.htm (2012-10-25)
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  • Organic Acidemia Association | OAA
    Vol 105 No 1 2012 pp 3 4 Kimberly A Chapman Marshall L Summar Propionic Acidemia Consensus Conference Summary with permission from Elsevier Reprinted from MOLECULAR GENETICS AND METABOLISM Vol 105 No 1 2012 pp 5 9 Loren Pena Jill Franks Kimberly A Chapman Andrea Gropman Nicholas Ah Mew Anupam Chakrapani Eddie Island Erin MacLeod Dietrich Matern Brittany Smith Kathy Stagni V Reid Sutton Keiko Ueda Tiina Urv Charles Venditti Gregory M Enns Marshall L Summar Natural History of Propionic Acidemia with permission from Elsevier Reprinted from MOLECULAR GENETICS AND METABOLISM Vol 105 No 1 2012 pp 10 15 John Schreiber Kimberly A Chapman Marshall L Summar Nicholas Ah Mew V Reid Sutton Erin MacLeod Kathy Stagni Keiko Ueda Jill Franks Eddie Island Dietrich Matern Loren Peña Brittany Smith Tiina Urv Charles Venditti Anupam Chakarapani Andrea L Gropman Neurologic Considerations in Propionic Acidemia with permission from Elsevier Reprinted from MOLECULAR GENETICS AND METABOLISM Vol 105 No 1 2012 pp 16 25 Kimberly A Chapman a Andrea Gropman Erin MacLeod Kathy Stagni Marshall L Summar Keiko Ued Nicholas Ah Mew Jill Franks Eddie Island Dietrich Matern Loren Pena Brittany Smith V Reid Sutton Tiina Urv Charles Venditti Anupam Chakrapani Acute Management

    Original URL path: http://www.oaanews.org/sources.htm (2012-10-25)
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  • Major Milestone in MMA Research | OAA
    to express the gene and then injected the mice immediately after birth They showed that 26 27 or greater than 95 of the treated mice live for more than 1 year this is the equivalent of living to 30 years for a person When untreated the MMA mice that did not receive the gene therapy had a 100 chance of dying They also used a non invasive technique that relies on carbon dioxide production by the mice to track the efficacy of gene therapy by capturing and analyzing expired breaths from the treated mice You can read the paper for details Because the type of virus AdenoAssociated Virus or AAV used by the team has been successfully given to humans many hundreds of times without any adverse event there is now great promise that gene therapy may be used to treat some of the children with Mut MMA There are implications for other disorders as well Great news for all OAA families A quote from the end of the paper Our studies are the first to demonstrate that methylmalonic acidemia and by extension other organic acidemias might be treated by gene therapy with a safe and effective vector This conclusion offers strong support for the continued and expanded screening of infants for disorders of intermediary metabolism and to the application of gene therapy to humans with methylmalonic acidemia This accomplishment is monumental in the path towards a cure for MMA in our children and I would be remiss if I did not express gratitude to several groups of folks First I d like to thank every person who supported the MMA Research Fund over the years As a small grass roots fund we have managed to raise in the order of a half million dollars over a nine year period

    Original URL path: http://www.oaanews.org/MajorMilestoneinMMAResearch.htm (2012-10-25)
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