DOCSLIB.ORG

1 FY 2018 & FY 2019 NBS Application for Funding Genetic Metabolic

Total Page：16

File Type：pdf, Size：1020Kb

Download full-text PDF Read full-text
1 FY 2018 & FY 2019 NBS Application for Funding Genetic Metabolic FY 2018 & FY 2019 NBS Application for Funding Genetic Metabolic Disorders The Indiana State Department of Health (ISDH) Maternal and Child Health’s (MCH) Genomics and Newborn Screening Program makes funds available for specific programs using this Grant Application Procedure (GAP). This GAP has been developed to support care services for Genetic Metabolic Disorders in order to reduce infant morbidity and mortality within the State of Indiana. APPLICATIONS MUST BE RECEIVED BY 4:00PM ON FRIDAY, AUGUST 18, 2017. 1. Submit application electronically to Maternal and Child Health to: [email protected] 2. The application must be typed (12 pt font) and double-spaced. Each page must be numbered sequentially beginning with Form A, the Applicant Information page. 3. Appendices must include team CVs, financial spreadsheets, and drafted goals with measurable outcomes. The appendix may include other information as you see fit. 4. All sections of the application must be submitted at the same time. Applications missing any section will not be reviewed. Questions regarding this grant application may be directed to the Maternal and Child Health Business Unit ([email protected] ) or Megan Griffie, Director of Genomics and Newborn Screening ([email protected] / 317-233-1231). Grant Application Packet Table of Contents: I. Purpose of Grant and Description of Required Services……………………...…………….………........2 i. Conditions included in treatment services ………………………………………………….3 II. FY 2018 and FY 2019 Genetic Services Grant Application Guidance….…..…………………………4-6 III. Application Forms i. Form A………………………………………………………………………………….……7 ii. Form B-1……………………………………………………………………………….…….8 iii. Form B-2……………………………………………………………………………….…….9 IV. Budget i. Budget Instructions…………………………………………………………………….........10 ii. Account Codes……………………………………………………………………………... 11 V. Resource Contact References ……………………………………........................................................... 12 VI. Definitions ……………………………………………………………………………………………… 13 1 Eligibility Criteria To be eligible for the genetic metabolic disorders funding opportunity, applicants must have a team including (at a minimum) a licensed/board-certified medical geneticist, genetic counselor(s), and social worker/case manager. Additionally, applicants must provide financial ability to maintain basic business practices (outside of the tasks included with this service) without grant awarded funding. Purpose of Grant Grant funding is offered from the Newborn Screening program to provide early intervention and follow-up services for children residing in the state of Indiana who were born with one or more metabolic disorders detected through newborn screening (see list of included disorders). Services include, but are not limited to, confirmatory testing and diagnosis, medical foods/metabolic formula, education for patient and family regarding care and lifestyle needs, family planning services for future family growth, etc. Additionally, this funding is purposed to provide genetic evaluation and counseling services while educating at both the community and health care professionals levels. Note: this funding opportunity is not intended to support personnel fees. Description of Required Services Applicants must, at a minimum, provide the following services: 1) Provide early contact with primary care provider (PCP) and families of children with newborn screening results that are positive for one or more metabolic disorder(s) and ensure that appropriate confirmatory testing is performed. 2) Provide services to patients in the State of Indiana, including the following: a) Genetic counseling, pre and post-diagnosis counseling, for prenatal patients (pregnant women) as appropriate; b) Evaluation and counseling to patients and families; and c) Other consultations as necessary. 3) Address access to care with patients and families (appropriateness of care/providers, transportation needs, funding and other resources available) 4) When appropriate, provide education to patients and families regarding the positive effects of family planning and options for future family growth as a genetic carrier, as well as referral to MCH programs as needed. 5) Provide educational presentations to the general public, health care professionals and college or graduate-level students regarding the field of medical genetics and the conditions treated. Note: use of technology and social media is highly encouraged Reporting Requirements 1) The grantee will be expected to maintain a log of follow-up services provided for all children receiving services funded by this grant. Note: this log is not intended to be shared regularly with ISDH, but must be provided upon request. Child’s name List of any additional information included in Child’s DOB the packet Parent’s name, address and zip code Method of consultation PCP’s name and address Date and time of consultation Date and time of phone conversations Summary of consultation Summary of phone conversation List of information provided to the parents Date packets were mailed Received completed evaluation Name and address where packets were mailed 2) The grantee will be required to meet with and submit bi-annual reports to ISDH Genomics and Newborn Screening team. 3) The grantee will be required to report quarterly to the ISDH Newborn Screen Follow-up Coordinator all children cared for and those who were missed or refused care, with rationale and attached documents waiving care. (Quarterly report sent to [email protected] ) 4) The grantee will be expected to utilize the Indiana Newborn Screening Tracking & Education Program (INSTEP) web application, when available, to maintain complete records, obtain NBS lab results, and track all children receiving services funded by this grant. 5) The grantee will be required to report any patients with a reportable birth defect to the Indiana Birth Defects and Problems Registry (IBDPR). 6) The grantee will create a waiver for parents wanting to opt out of these follow-up services and will keep a list of individuals opting out or lost to follow-up. 2 Metabolic Conditions Amino Acid (AA) Disorders (includes urea cycle disorders) Arginase deficiency (argininemia) Argininosuccinic aciduria Biopterin cofactor defects Citrullinemia (CIT type I) Citrin deficiency (CIT type II) Homocystinuria (HCY) Hypermethioninenemia Hyperphenylalaninemia Maple syrup urine disease (MSUD) Phenylketonuria (PKU) Tyrosinemia type I Tyrosinemia type II Tyrosinemia type III Fatty Acid Oxidation (FAO) Disorders 2,4-dienoyl-CoA reductase deficiency Carnitine-acylcarnitine translocase deficiency (CACT) Carnitine palmitoyltransferase deficiency I (CPT IA) Carnitine palmitoyltransferase deficiency II (CPT II) Carnitine uptake defect (CUD) Glutaric acidemia type II (also called GA type II, electron transfer flavoprotein deficiency, ETF deficiency, multiple acyl-CoA dehydrogenase deficiency, or multiple FAD dehydrogenase deficiency) Long chain hydroxyacyl-CoA dehydrogenase deficiency (LCHAD) Medium chain acyl-CoA dehydrogenase deficiency (MCAD) Short chain acyl-CoA dehydrogenase deficiency (SCAD) Short chain hydroxyacyl-CoA dehydrogenase deficiency (SCHAD) Trifunctional enzyme deficiency Very long chain acyl-CoA dehydrogenase deficiency (VLCAD) Organic Acidemias (OA) 2-Methylbutyrylglycinuria (2-MBG) 3-Hydroxy-3-methyl glutaric aciduria (HMG) 3-Methylcrotonyl-CoA carboxylase deficiency (3-MCC deficiency) 3-Methylglutaconic acidemia (3-MGA) Beta-ketothiolase deficiency Glutaric acidemia, type I (GA type I) Isobutyrylglycinuria (IBG) Isovaleric acidemia (IVA) Malonic aciduria (MAL) Methylmalonic acidemia (MUT or methylmalonyl-CoA mutase) Methylmalonic acidemia with cobalamin disorders (CblA & CblB) Methylmalonic academia with homocystinuria (CblC & CblD) Multiple-CoA carboxylase deficiency Propionic acidemia Other metabolic conditions Biotinidase deficiency Galactosemia (including variants) 3 FY 2018 & FY 2019 Genetic Services Application Guidance Please complete/create the following components 1. Applicant Information Page (Form A) (provided) This is the first page of the proposal. Complete all items on the page provided (Form A). The project director and the person authorized to make legal and contractual agreements for the applicant agency must sign and date this document. If the project will not require a medical and/or dental director, write “not applicable” on the appropriate line(s). All appropriate lines must be signed and dated. 2. Table of Contents (created by applicant) The table of contents must indicate the page where each section begins, including appendices. 3. Genetic Metabolic Disorders Services Proposal Narrative A. Summary (created by applicant) Begin this page with the Title of Project as stated on the Applicant Information Page. The summary will provide the reviewer a succinct and clear overview of the proposal. The summary should: Relate to Genetic Metabolic Disorders Program services only; Identify the problem(s) to be addressed; Outline work plans to meet requirements of services provided Succinctly state goals of your work plan; Include a brief overview of evaluation/quality assurance methods B. Forms B-1 and B-2 (provided) All information on the Project Description Forms (Forms B-1 and B-2) must be completed. This summary form with its narrative will become part of the grant agreement and will also be used as a fact sheet on the project. Form B-2 requests specific information on each clinic site. The following
Load more

Recommended publications
  • Hyperammonemia in Review: Pathophysiology, Diagnosis, and Treatment
    Pediatr Nephrol DOI 10.1007/s00467-011-1838-5 EDUCATIONAL REVIEW Hyperammonemia in review: pathophysiology, diagnosis, and treatment Ari Auron & Patrick D. Brophy Received: 23 September 2010 /Revised: 9 January 2011 /Accepted: 12 January 2011 # IPNA 2011 Abstract Ammonia is an important source of nitrogen and is the breakdown and catabolism of dietary and bodily proteins, required for amino acid synthesis. It is also necessary for respectively. In healthy individuals, amino acids that are not normal acid-base balance. When present in high concentra- needed for protein synthesis are metabolized in various tions, ammonia is toxic. Endogenous ammonia intoxication chemical pathways, with the rest of the nitrogen waste being can occur when there is impaired capacity of the body to converted to urea. Ammonia is important for normal animal excrete nitrogenous waste, as seen with congenital enzymatic acid-base balance. During exercise, ammonia is produced in deficiencies. A variety of environmental causes and medica- skeletal muscle from deamination of adenosine monophos- tions may also lead to ammonia toxicity. Hyperammonemia phate and amino acid catabolism. In the brain, the latter refers to a clinical condition associated with elevated processes plus the activity of glutamate dehydrogenase ammonia levels manifested by a variety of symptoms and mediate ammonia production. After formation of ammonium signs, including significant central nervous system (CNS) from glutamine, α-ketoglutarate, a byproduct, may be abnormalities. Appropriate and timely management requires a degraded to produce two molecules of bicarbonate, which solid understanding of the fundamental pathophysiology, are then available to buffer acids produced by dietary sources. differential diagnosis, and treatment approaches available.
    [Show full text]
  • Newborn Screening Laboratory Manual of Services
    Newborn Screening Laboratory Manual of Services Test Panel: Please see the following links for a detailed description of testing in the Newborn Screening section. Information about the Newborn Screening program is available here. Endocrine Disorders Congenital adrenal hyperplasia (CAH) Congenital hypothyroidism (TSH) Hemoglobinopathies Sickle cell disease (FS) Alpha (Barts) Sickle βeta Thalassemia (FSA) Other sickling hemoglobinopathies such as: FAS FAC FAD FAE Homozygous conditions such as: FC FD FE Metabolic Disorders Biotinidase deficiency Galactosemia Cystic fibrosis (CF) first tier screening for elevated immunoreactive trypsinogen (IRT) Cystic fibrosis second tier genetic mutation analysis on the top 4% IRT concentrations. Current alleles detected : F508del, I507del, G542X, G85E, R117H, 621+1G->T, 711+1G->T, R334W, R347P, A455E, 1717-1G->A, R560T, R553X, G551D, 1898+1G->A, 2184delA, 2789+5G->A, 3120+1G->A, R1162X, 3659delC, 3849+10kbC->T, W1282X, N1303K, IVS polyT T5/T7/T9 *Currently validating a mutation panel that includes the above alleles in addition to the following: 1078delT, Y122X, 394delTT, R347H, M1101K, S1255X, 1898+5G->T, 2183AA->G, 2307insA, Y1092X, 3876delA, 3905insT, S549N, S549R_1645A->C, S549R-1647T->G, S549R-1647T->G, V520F, A559T, 1677delTA, 2055del9->A, 2143delT, 3199del6, 406-1G->A, 935delA, D1152H, CFTRdele2, E60X, G178R, G330X, K710X, L206W, Q493X, Q890X, R1066C, R1158X, R75X, S1196X, W1089X, G1244E, G1349D, G551S, R560KT, S1251N, S1255P Amino acid disorders Phenylketonuria (PKU) / Hyperphenylalaninemia Maple
    [Show full text]
  • Disorders Included in the Newborn Screening Panel Disorders
    Disorders Included in the Newborn Screening Panel Disorders Detected by Tandem Mass Spectrometry Acylcarnitine Profile Amino Acid Profile Fatty Acid Oxidation Disorders Amino Acid Disorders Carnitine/Acylcarnitine Translocase Deficiency Argininemia 1 Carnitine Palmitoyl Transferase Deficiency Type I Argininosuccinic Aciduria 1 3-Hydroxy Long Chain Acyl-CoA Dehydrogenase 5-Oxoprolinuria 1 Deficiency Carbamoylphosphate Synthetase Deficiency 1 2,4-Dienoyl-CoA Reductase Deficiency Citrullinemia Medium Chain Acyl-CoA Dehydrogenase Deficiency Homocystinuria Multiple Acyl-CoA Dehydrogenase Deficiency Hypermethioninemia Neonatal Carnitine Palmitoyl Transferase Deficiency Hyperammonemia, Hyperornithinemia, Homocitrullinuria Type II Syndrome1 1 Short Chain Acyl-CoA Dehydrogenase Deficiency Hyperornithinemia with Gyral Atrophy Short Chain Hydroxy Acyl-CoA Dehydrogenase Maple Syrup Urine Disease Deficiency Phenylketonuria Trifunctional Protein Deficiency Classical/Hyperphenylalaninemia Very Long Chain Acyl-CoA Dehydrogenase Deficiency Biopterin Cofactor Deficiencies Tyrosinemia Organic Acid Disorders Transient Neonatal Tyrosinemia 2 Tyrosinemia Type I 3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency Tyrosinemia Type II Glutaric Acidemia Type I Tyrosinemia Type III Isobutyryl-CoA Dehydrogenase Deficiency Isovaleric Acidemia 2-Methylbutyryl-CoA Dehydrogenase Deficiency 3-Methylcrotonyl-CoA Carboxylase Deficiency Other Observations 3-Methylglutaconyl-CoA Hydratase Deficiency Methylmalonic Acidemias Hyperalimentation Methylmalonyl-CoA Mutase Deficiency
    [Show full text]
  • Arginine-Provider-Fact-Sheet.Pdf
    Arginine (Urea Cycle Disorder) Screening Fact Sheet for Health Care Providers Newborn Screening Program of the Oklahoma State Department of Health What is the differential diagnosis? Argininemia (arginase deficiency, hyperargininemia) What are the characteristics of argininemia? Disorders of arginine metabolism are included in a larger group of disorders, known as urea cycle disorders. Argininemia is an autosomal recessive inborn error of metabolism caused by a defect in the final step in the urea cycle. Most infants are born to parents who are both unknowingly asymptomatic carriers and have NO known history of a urea cycle disorder in their family. The incidence of all urea cycle disorders is estimated to be about 1:8,000 live births. The true incidence of argininemia is not known, but has been estimated between 1:350,000 and 1:1,000,000. Argininemia is usually asymptomatic in the neonatal period, although it can present with mild to moderate hyperammonemia. Untreated, argininemia usually progresses to severe spasticity, loss of ambulation, severe cognitive and intellectual disabilities and seizures Lifelong treatment includes a special diet, and special care during times of illness or stress. What is the screening methodology for argininemia? 1. An amino acid profile by Tandem Mass Spectrometry (MS/MS) is performed on each filter paper. 2. Arginine is the primary analyte. What is an in-range (normal) screen result for arginine? Arginine less than 100 mol/L is NOT consistent with argininemia. See Table 1. TABLE 1. In-range Arginine Newborn Screening Results What is an out-of-range (abnormal) screen for arginine? Arginine > 100 mol/L requires further testing.
    [Show full text]
  • What Disorders Are Screened for by the Newborn Screen?
    What disorders are screened for by the newborn screen? Endocrine Disorders The endocrine system is important to regulate the hormones in our bodies. Hormones are special signals sent to various parts of the body. They control many things such as growth and development. The goal of newborn screening is to identify these babies early so that treatment can be started to keep them healthy. To learn more about these specific disorders please click on the name of the disorder below: English: Congenital Adrenal Hyperplasia Esapnol Hiperplasia Suprarrenal Congenital - - http://www.newbornscreening.info/Parents/otherdisorders/CAH.html - http://www.newbornscreening.info/spanish/parent/Other_disorder/CAH.html - Congenital Hypothyroidism (Hipotiroidismo Congénito) - http://www.newbornscreening.info/Parents/otherdisorders/CH.html - http://www.newbornscreening.info/spanish/parent/Other_disorder/CH.html Hematologic Conditions Hemoglobin is a special part of our red blood cells. It is important for carrying oxygen to the parts of the body where it is needed. When people have problems with their hemoglobin they can have intense pain, and they often get sick more than other children. Over time, the lack of oxygen to the body can cause damage to the organs. The goal of newborn screening is to identify babies with these conditions so that they can get early treatment to help keep them healthy. To learn more about these specific disorders click here (XXX). - Sickle Cell Anemia (Anemia de Célula Falciforme) - http://www.newbornscreening.info/Parents/otherdisorders/SCD.html - http://www.newbornscreening.info/spanish/parent/Other_disorder/SCD.html - SC Disease (See Previous Link) - Sickle Beta Thalassemia (See Previous Link) Enzyme Deficiencies Enzymes are special proteins in our body that allow for chemical reactions to take place.
    [Show full text]
  • AMERICAN ACADEMY of PEDIATRICS Reimbursement For
    AMERICAN ACADEMY OF PEDIATRICS POLICY STATEMENT Organizational Principles to Guide and Define the Child Health Care System and/or Improve the Health of All Children Committee on Nutrition Reimbursement for Foods for Special Dietary Use ABSTRACT. Foods for special dietary use are recom- DEFINITION OF FOODS FOR SPECIAL mended by physicians for chronic diseases or conditions DIETARY USE of childhood, including inherited metabolic diseases. Al- The US Food and Drug Administration, in the though many states have created legislation requiring Code of Federal Regulations,2 defines special dietary reimbursement for foods for special dietary use, legisla- use of foods as the following: tion is now needed to mandate consistent coverage and reimbursement for foods for special dietary use and re- a. Uses for supplying particular dietary needs that lated support services with accepted medical benefit for exist by reason of a physical, physiologic, patho- children with designated medical conditions. logic, or other condition, including but not limited to the conditions of diseases, convalescence, preg- ABBREVIATION. AAP, American Academy of Pediatrics. nancy, lactation, allergic hypersensitivity to food, [and being] underweight and overweight; b. Uses for supplying particular dietary needs which BACKGROUND exist by reason of age, including but not limited to pecial foods are recommended by physicians to the ages of infancy and childhood; foster normal growth and development in some c. Uses for supplementing or fortifying the ordinary or usual diet with any vitamin, mineral, or other children and to prevent serious disability and S dietary property. Any such particular use of a even death in others. Many of these special foods are food is a special dietary use, regardless of whether technically specialized formulas for which there may such food also purports to be or is represented for be a relatively small market, which makes them more general use.
    [Show full text]
  • Newborn Screening FACT Sheet
    Newborn Screening FACT Sheet Argininemia (ARG) What is Argininemia? What Symptoms or Problems Occur with ARG? Argininemia (ARG) is a condition that causes harmful [Symptoms are something out of the ordinary that a amounts of arginine and ammonia to build up in the parent notices.] body. It is considered an amino acid condition because people affected with ARG are unable to break down an Signs of ARG can begin any time from infancy to childhood. amino acid, a small molecule that makes up proteins, Usually, signs begin to show at around one to three years known as arginine. You may also hear ARG called a urea of age and include: cycle condition. This name is used to describe conditions • delayed growth • vomiting that cause ammonia to accumulate in the body. If • developmental • weak muscle tone untreated, argininemia can cause muscle problems and delays (called hypotonia) developmental delay. However, if the condition is • balancing trouble • trouble regulating detected early and proper treatment is initiated, • tight, rigid muscles body temperature individuals with argininemia can often lead healthy lives. (called spasticity) (your baby might • irritability get cold easily) What Causes ARG? • • small head size When we eat food, enzymes help break it down. Some poor appetite • • hyperactivity enzymes help break down proteins into their building sleeping longer or blocks, called amino acids. Other enzymes break down more often these amino acids. In ARG, the enzyme arginase is not working correctly. Many of these signs may occur when your baby eats foods that his or her body cannot break down. They can Arginase’s job is to help break down the amino acid be triggered by long periods of time without eating, arginine and remove ammonia from the body through illness, and infections.
    [Show full text]
  • Treatable Inborn Errors of Metabolism Presenting As Cerebral Palsy Mimics
    Leach et al. Orphanet Journal of Rare Diseases 2014, 9:197 http://www.ojrd.com/content/9/1/197 RESEARCH Open Access Treatable inborn errors of metabolism presenting as cerebral palsy mimics: systematic literature review Emma L Leach1,2, Michael Shevell3,4,KristinBowden2, Sylvia Stockler-Ipsiroglu2,5,6 and Clara DM van Karnebeek2,5,6,7,8* Abstract Background: Inborn errors of metabolism (IEMs) have been anecdotally reported in the literature as presenting with features of cerebral palsy (CP) or misdiagnosed as ‘atypical CP’. A significant proportion is amenable to treatment either directly targeting the underlying pathophysiology (often with improvement of symptoms) or with the potential to halt disease progression and prevent/minimize further damage. Methods: We performed a systematic literature review to identify all reports of IEMs presenting with CP-like symptoms before 5 years of age, and selected those for which evidence for effective treatment exists. Results: We identified 54 treatable IEMs reported to mimic CP, belonging to 13 different biochemical categories. A further 13 treatable IEMs were included, which can present with CP-like symptoms according to expert opinion, but for which no reports in the literature were identified. For 26 of these IEMs, a treatment is available that targets the primary underlying pathophysiology (e.g. neurotransmitter supplements), and for the remainder (n = 41) treatment exerts stabilizing/preventative effects (e.g. emergency regimen). The total number of treatments is 50, and evidence varies for the various treatments from Level 1b, c (n = 2); Level 2a, b, c (n = 16); Level 4 (n = 35); to Level 4–5 (n = 6); Level 5 (n = 8).
    [Show full text]
  • Increased Arginine Amino Aciduria/Urea Cycle Disorder
    Newborn Screening ACT Sheet Increased Arginine Amino Aciduria/Urea Cycle Disorder Differential Diagnosis: Argininemia (ARG) Condition Description: The urea cycle is the enzyme cycle whereby ammonia is converted to urea. In argininemia, defects in arginase, a urea cycle enzyme, may result in hyperammonemia. Take the Following IMMEDIATE Actions • Contact family to inform them of the newborn screening result and ascertain clinical status (poor feeding, vomiting, lethargy, tachypnea). • Immediate telephone consultation with pediatric metabolic specialist. (See attached list.) • Evaluate the newborn (poor feeding, vomiting, lethargy, hypotonia, tachypnea, seizures and signs of liver disease). • If any sign is present or infant is ill, IMMEDIATELY initiate emergency treatment for hyperammonemia in consultation with metabolic specialist. • Transport to hospital for further treatment in consultation with metabolic specialist. • Initiate timely confirmatory/diagnostic testing and management, as recommended by specialist. • Initial testing: immediate plasma ammonia, plasma quantitative amino acids, and urine orotic acid. • Repeat newborn screen if second screen has not been done. • Provide family with basic information about hyperammonemia. • Report findings to newborn screening program. Diagnostic Evaluation: Specific diagnosis is made by plasma quantitative amino acid analysis revealing increased arginine and urine orotic acid analysis revealing increased orotic acid, respectively. Blood ammonia determination may also reveal hyperammonemia. Clinical
    [Show full text]
  • Arginase Deficiency
    Arginase Deficiency Lauren Ballard, Alex Belardo, Lainie Boyle, Abby Dryden, Rachel Kirchner, M’Lynn Gwinner, Shreya Nalluri, & Julia Slogar Service Learning Initiative in Biochemistry 5614 (Autumn 2018) Argininemia: An autosomal recessive disorder Video on Inheritance Patterns HNEkidshealth. “Autosomal Recessive Inheritance - Genetics.” YouTube, YouTube, 30 Mar. 2015, www.youtube.com/watch?v=Nv6qUsKYodA. Argininemia ● Inherited disorder that causes arginine (amino acid) and ammonia to build up in the blood ● The deficiency usually becomes evident by 3 years of age ● Occurs once in every 300,000 to 1,000,000 individuals ● Caused by a mutation in the ARG1 gene, which encodes the enzyme arginase Baby's first foods: Where to begin? Digital image retrieved ● Inherited in an autosomal recessive pattern October 31, 2018 from https://www.kabritausa.com/blog/babys-first-foods-begin/ Protein Metabolism Amino acids Peptide Protein How Your Body Uses Amino Acids as Proteins. Digital image retrieved October 31, 2018 https://socratic.org/questions/amino-acids-as-monomers-of-protein ● Amino Acids are the building blocks of proteins ● Dietary protein must be broken down into amino acids Protein Metabolism + NH4 Urea (waste) Dietary Protein Amino Acids Carbon Glucose backbone (energy) Intracellular Protein Argininemia and the Urea Cycle ● Disorder of the urea cycle ● Our bodies produce ammonia as metabolic waste - Ammonia is highly toxic and must be discarded ● The urea cycle in the liver converts ammonia to urea, a less toxic compound Urea Cycle. Digital image retrieved October 31, 2018 from https://www.slideshare.net/YESANNA/urea-cycle-44200147 What is Argininemia? ● Disorder of the urea cycle ● Dysfunctional arginase enzyme disrupts final step of urea cycle ● Build-up of ammonia in the blood X Urea Cycle.
    [Show full text]
  • Newborn Screening: Toward a Uniform Screening Panel
    NNEWBORN SSCREENING:: TTOWARD A UUNIFORM SSCREENING PPANEL AND SSYSTEM 1 Newborn Screening Steering Committee Jose Cordero, MD, MPH Michele A. Lloyd-Puryear, MD, PhD Centers for Disease Control and Prevention Maternal and Child Health Bureau Health Resources and Services Administration Health Resources and Services Administration E. Steven Edwards, MD Marie Y. Mann, MD, MPH (Project Officer) Past President Maternal and Child Health Bureau American Academy of Pediatrics Health Resources and Services Administration R. Rodney Howell, MD Tricia Mullaley American College of Medical Genetics Genetic Alliance University of Miami School of Medicine Peter van Dyck, MD, MPH Jennifer L. Howse, PhD Maternal and Child Health Bureau President Health Resources and Services Administration March of Dimes Birth Defects Organization Michael S. Watson, PhD (Project Director) American College of Medical Genetics Newborn Screening Expert Group R. Rodney Howell, MD (Chair) Fernando Guerra, MD, MPH American College of Medical Genetics San Antonio Metropolitan Health District University of Miami School of Medicine W. Harry Hannon, PhD (ex officio) William Becker, DO Centers for Disease Control and Prevention Association of Public Health Laboratories Ohio State Department of Health James Hanson, MD (ex officio) Ohio State University National Institute of Child Health and Human Development Coleen Boyle, PhD (ex officio) National Institutes of Health Centers for Disease Control and Prevention Cecilia Larson, MD George C. Cunningham, MD, MPH New England Newborn Screening Program Genetics Disease Branch California Department of Health Services Michele A. Lloyd-Puryear, MD, PhD (ex officio) Maternal and Child Health Bureau Michael R. DeBaun, MD, MPH Health Resources and Services Administration Washington University School of Medicine Marie Y.
    [Show full text]
  • Transient Tyrosinemia Resolves Within a Month Or Two of Birth Or Vitamin C Supplements for a Few Days Will Shorten the Time
    OFFICE OF THE SECRETARY OF STATE ARCHIVES DIVISION BEV CLARNO STEPHANIE CLARK SECRETARY OF STATE INTERIM DIRECTOR A. RICHARD VIAL 800 SUMMER STREET NE DEPUTY SECRETARY OF STATE SALEM, OR 97310 503-373-0701 NOTICE OF PROPOSED RULEMAKING INCLUDING STATEMENT OF NEED & FISCAL IMPACT FILED 08/20/2019 3:26 PM CHAPTER 333 ARCHIVES DIVISION OREGON HEALTH AUTHORITY SECRETARY OF STATE PUBLIC HEALTH DIVISION FILING CAPTION: Update of Newborn Bloodspot Screening rules LAST DAY AND TIME TO OFFER COMMENT TO AGENCY: 09/23/2019 5:00 PM The Agency requests public comment on whether other options should be considered for achieving the rule's substantive goals while reducing negative economic impact of the rule on business. CONTACT: Brittany Hall 800 NE Oregon St. Suite 930 Filed By: 503-449-9808 Portland,OR 97232 Brittany Hall [email protected] Rules Coordinator HEARING(S) Auxilary aids for persons with disabilities are available upon advance request. Notify the contact listed above. DATE: 09/16/2019 TIME: 2:30 PM OFFICER: Staff ADDRESS: Portland State Office Building 800 NE Oregon St. Room 1D Portland, OR 97232 NEED FOR THE RULE(S): The Oregon Health Authority (Authority), Public Health Division, Oregon State Public Health Laboratory's (OSPHL) Northwest Regional Newborn Bloodspot Screening Program (NWRNBS Program) is proposing permanent amendments to administrative rules in chapter 333, division 24 pertaining to newborn screening to update and clarify rules. The proposed rule amendments update the rules regarding the definition of terms used, timing for collecting specimens, methods of testing and the retention of residual specimens. In addition, the proposed rule amendments include housekeeping edits and update the reference to the Oregon Newborn Bloodspot Screening Practitioner’s Manual throughout the rules.
    [Show full text]