DOCSLIB.ORG

Birth Prevalence of Disorders Detectable Through Newborn Screening by Race/Ethnicity

Total Page：16

File Type：pdf, Size：1020Kb

Download full-text PDF Read full-text
Birth Prevalence of Disorders Detectable Through Newborn Screening by Race/Ethnicity ©American College of Medical Genetics and Genomics ORIGINAL RESEARCH ARTICLE Birth prevalence of disorders detectable through newborn screening by race/ethnicity Lisa Feuchtbaum, DrPH, MPH1, Jennifer Carter, MPH2, Sunaina Dowray, MPH2, Robert J. Currier, PhD1 and Fred Lorey, PhD1 Purpose: The purpose of this study was to describe the birth prev- Conclusion: The California newborn screening data offer a alence of genetic disorders among different racial/ethnic groups unique opportunity to explore the birth prevalence of many through population-based newborn screening data. genetic dis orders across a wide spectrum of racial/ethnicity classifications. The data demonstrate that racial/ethnic subgroups Methods: Between 7 July 2005 and 6 July 2010 newborns in Cali- of the California newborn population have very different patterns fornia were screened for selected metabolic, endocrine, hemoglobin, of heritable disease expression. Determining the birth prevalence and cystic fibrosis disorders using a blood sample collected via heel of these disorders in California is a first step to understanding stick. The race and ethnicity of each newborn was self-reported by the short- and long-term medical and treatment needs faced by the mother at the time of specimen collection. affected communities, especially those groups that are impacted by Results: Of 2,282,138 newborns screened, the overall disorder detec- more severe disorders. tion rate was 1 in 500 births. The disorder with the highest prevalence Genet Med 2012:14(11):937–945 among all groups was primary congenital hypothyroidism (1 in 1,706 births). Birth prevalence for specific disorders varied widely among Key Words: birth prevalence; disorders; newborn screening; race different racial/ethnic groups. and ethnicity INTRODUCTION 18 unique racial/ethnic categories on the NBS bloodspot col- State wide newborn screening (NBS) programs provide lection card, which includes nearly all of the proposed racial/ population-based screening for genetic disorders, with addi- ethnic categories described in the recently released guidelines tional follow-up services to ensure that all newborns with posi- by the US Department of Health and Human Services.3 Thus, tive screening test results are referred for confirmatory testing. the California NBS data offers a unique opportunity to explore In the past several years, there has been a successful nationwide the population distribution of the core and secondary disor- effort for states to adopt a Recommended Uniform Screening ders across racial/ethnicity classifications that closely resem- Panel so that all newborns in the United States are screened ble the newly promulgated categories. Determining the birth for a similar set of core conditions.1 The core panel currently prevalence of these disorders is a first step to understanding consists of 31 primary conditions including disorders detect- the short- and long-term disease management needs faced by able using tandem mass spectrometry (MS/MS), endocrine affected communities, especially those groups that are impacted and hemoglobin disorders, cystic fibrosis (CF), and, recently by more severe disorders. These data may also be informative added, severe combined immunodeficiency and critical con- to public health officials in other countries who want to know genital heart defects. Today, almost all states have adopted which disorders impact selected populations. the core panel of NBS disorders, except for severe combined Given the rarity of many of the disorders, it is difficult for indi- immunodeficiency and critical congenital heart defects, which vidual state screening programs to develop statistically signifi- are yet to be widely available. Additional disorders can also be cant comparisons of disorder prevalence rates by specific racial/ identified as part of the differential diagnosis of the core panel, ethnicity groups. Individual states may be too small or may lack but these secondary disorders are not uniformly included by all significant ethnic diversity. Only limited race-specific disorder state programs. The National Newborn Screening & Genetics profiles have been reported elsewhere. Previous research has Resource Center provides up-to-date information about the examined the relationship between ethnicity and a single genetic conditions screened for within the United States.2 disorder, including the prevalence of a mutation or disorder Despite the increase in the number of disorders detected within a specific ethnic group,4–8 within several ethnic groups through NBS programs in the United States, there is a lack of in a region,9–17 or by geographic region only.18,19 No studies have up-to-date knowledge about how often the disorders occur and published the disorder prevalence rates by specific racial/eth- who is affected by them. The California NBS program includes nicity groups in a large US population. California is unique in 1Genetic Disease Screening Program, California Department of Public Health, Richmond, California, USA; 2Public Health Foundation Enterprises, City of Industry, California, USA. Correspondence: Lisa Feuchtbaum ([email protected]) Submitted 17 January 2012; accepted 30 May 2012; advance online publication 5 July 2012. doi:10.1038/gim.2012.76 GENETICS in MEDICINE | Volume 14 | Number 11 | November 2012 937 ORIGINAL RESEARCH ARTICLE FEUCHTBAUM et al | Birth prevalence of NBS disorders by race/ethnicity that it has the largest population of any single state in the United for which screening is required shall report such a diagnosis States with more than 50% of the population identified as part of and the information necessary for follow-up and investigation a minority group.20 to the Public Health Department.24 Thus, this study includes all In July 2005, the NBS panel was expanded to include all of genetic disorders screened and reported in California during the primary and secondary conditions recommended by the the 5-year time frame. Secretary’s Advisory Committee on Heritable Disorders in Information on race/ethnicity of the infants was reported by Newborns and Children.1 A detailed clinical description of all the mother, who was instructed to select all applicable choices of the disorders screened for can be found at the GeneReviews from a selection of 18 distinct racial/ethnicity categories on the website.21 This article provides a comprehensive accounting of NBS test requisition form. To check the extent of misclassifi- all clinical determinations for all newborns with a positive NBS cation bias of race/ethnicity, we linked NBS records with vital test result who were referred for confirmatory testing during statistics birth certificate records for a sample year (2007) and the study period, including those conditions with mild, ques- assessed the level of agreement between the two data sources. tionable, or yet unknown clinical significance. Through the On the basis of this analysis, we collapsed some race catego- NBS long-term follow-up data collection process,22 we hope ries into combination groups (i.e., “Pacific Islander,” “Southeast to learn more about the clinical significance of these and all Asian”) and assigned newborns to 1 of 16 racial/ethnic catego- disorders diagnosed through screening. The birth prevalence ries, which are defined in Table 1. rates of these conditions (hereafter referred to as “disorders”) All positive test results were reported to the California Genetic are reported for specific racial/ethnic groups. Disease Screening Program (GDSP) through a secure computer- based online Screening Information System. Newborns with ini- MATERIALS AND METHODS tial screen-positive results were referred to a state-contracted spe- The cohort described in this study includes all screened new- cialty follow-up center for endocrine, metabolic, hemoglobin,12 borns who were born between 7 July 2005 and 6 July 2010. Blood or CF disorders. Center specialists determined whether referred specimens were collected by heel-stick between 12 h and 6 days children had a disorder through appropriate confirmatory test- after birth, with 96.6% of specimens collected between 12 and ing. Confirmatory algorithms for follow-up of MS/MS disorders 72 h of age. Following collection, all specimens were sent by the were developed by a committee of state metabolic specialists; collecting hospitals to a state-approved laboratory for testing. endocrine, hemoglobin, and CF specialists also meet regularly Screening for metabolic disorders was conducted by measuring to review cases to promote consistency of follow-up protocols acylcarnitines and amino acids by MS/MS; endocrine disorders and case definitions. Final determinations of disease status were (including congenital hypothyroidism(CH) and congenital adre- reported to the GDSP regardless of disorder severity. nal hypoplasia (CAH)) were screened by fluorescent immuno- Newborns who did not meet the guidelines for “typical” CF, assay followed by a second-tier high-performance liquid chro- but who were determined to have an intermediate form of the matography and an tandem mass spectrometry assay for CAH disorder called transmembrane conductance regulator–related using androstenedione, cortisol, and 17-hydroxyprogesterone; metabolic syndrome (CRMS) were included in the list of dis- hemoglobin disorders were screened by high-performance liq- orders. This condition is characterized by a borderline sweat uid chromatography; galactosemia and biotinidase deficiency test result along with the detection of up to two cystic fibro-
Load more

Recommended publications
  • CBS, MET Act Sheet
    Newborn Screening ACT Sheet Increased Methionine Homocystinuria (CBS Deficiency) / Hypermethioninemia (MET) Differential Diagnosis: Classical homocystinuria (cystathionine β-synthase (CBS) deficiency); hypermethioninemia (MET) due to methionine adenosyltransferase I/III MAT I/III deficiency; glycine n-methyltransferase GNMT deficiency; adenosylhomocysteine hydrolase deficiency; liver disease; hyperalimentation. Condition Description: Methionine from ingested protein is normally converted to homocysteine. In classical homocystinuria due to CBS deficiency, homocysteine cannot be converted to cystathionine. As a result, the concentration of homocysteine and its precursor, methionine, will become elevated. In MAT I/III deficiency and the other hypermethioninemias, methionine is increased in the absence of, or only with, a slightly increased level of homocysteine. You Should Take the Following IMMEDIATE Actions • Contact family to inform them of the newborn screening result and ascertain clinical status. • Consult with pediatric metabolic specialist. (See attached list.) • Evaluate the newborn with attention to liver disease and refer as appropriate. • Initiate confirmatory/diagnostic tests in consultation with metabolic specialist. • Initial testing: Plasma quantitative amino acids and plasma total homocysteine. • Repeat newborn screen if second screen has not been done. • Educate family about homocystinuria and its management as appropriate. • Report findings to newborn screening program. Diagnostic Evaluation: Plasma quantitative amino
    [Show full text]
  • Incidence of Inborn Errors of Metabolism by Expanded Newborn
    Original Article Journal of Inborn Errors of Metabolism & Screening 2016, Volume 4: 1–8 Incidence of Inborn Errors of Metabolism ª The Author(s) 2016 DOI: 10.1177/2326409816669027 by Expanded Newborn Screening iem.sagepub.com in a Mexican Hospital Consuelo Cantu´-Reyna, MD1,2, Luis Manuel Zepeda, MD1,2, Rene´ Montemayor, MD3, Santiago Benavides, MD3, Hector´ Javier Gonza´lez, MD3, Mercedes Va´zquez-Cantu´,BS1,4, and Hector´ Cruz-Camino, BS1,5 Abstract Newborn screening for the detection of inborn errors of metabolism (IEM), endocrinopathies, hemoglobinopathies, and other disorders is a public health initiative aimed at identifying specific diseases in a timely manner. Mexico initiated newborn screening in 1973, but the national incidence of this group of diseases is unknown or uncertain due to the lack of large sample sizes of expanded newborn screening (ENS) programs and lack of related publications. The incidence of a specific group of IEM, endocrinopathies, hemoglobinopathies, and other disorders in newborns was obtained from a Mexican hospital. These newborns were part of a comprehensive ENS program at Ginequito (a private hospital in Mexico), from January 2012 to August 2014. The retrospective study included the examination of 10 000 newborns’ results obtained from the ENS program (comprising the possible detection of more than 50 screened disorders). The findings were the following: 34 newborns were confirmed with an IEM, endocrinopathies, hemoglobinopathies, or other disorders and 68 were identified as carriers. Consequently, the estimated global incidence for those disorders was 3.4 in 1000 newborns; and the carrier prevalence was 6.8 in 1000. Moreover, a 0.04% false-positive rate was unveiled as soon as diagnostic testing revealed negative results.
    [Show full text]
  • Inherited Metabolic Disease
    Inherited metabolic disease Dr Neil W Hopper SRH Areas for discussion • Introduction to IEMs • Presentation • Initial treatment and investigation of IEMs • Hypoglycaemia • Hyperammonaemia • Other presentations • Management of intercurrent illness • Chronic management Inherited Metabolic Diseases • Result from a block to an essential pathway in the body's metabolism. • Huge number of conditions • All rare – very rare (except for one – 1:500) • Presentation can be non-specific so index of suspicion important • Mostly AR inheritance – ask about consanguinity Incidence (W. Midlands) • Amino acid disorders (excluding phenylketonuria) — 18.7 per 100,000 • Phenylketonuria — 8.1 per 100,000 • Organic acidemias — 12.6 per 100,000 • Urea cycle diseases — 4.5 per 100,000 • Glycogen storage diseases — 6.8 per 100,000 • Lysosomal storage diseases — 19.3 per 100,000 • Peroxisomal disorders — 7.4 per 100,000 • Mitochondrial diseases — 20.3 per 100,000 Pathophysiological classification • Disorders that result in toxic accumulation – Disorders of protein metabolism (eg, amino acidopathies, organic acidopathies, urea cycle defects) – Disorders of carbohydrate intolerance – Lysosomal storage disorders • Disorders of energy production, utilization – Fatty acid oxidation defects – Disorders of carbohydrate utilization, production (ie, glycogen storage disorders, disorders of gluconeogenesis and glycogenolysis) – Mitochondrial disorders – Peroxisomal disorders IMD presentations • ? IMD presentations • Screening – MCAD, PKU • Progressive unexplained neonatal
    [Show full text]
  • Genes Investigated
    BabyNEXTTM EXTENDED Investigated genes and associated diseases Gene Disease OMIM OMIM Condition RUSP gene Disease ABCC8 Familial hyperinsulinism 600509 256450 Metabolic disorder - ABCC8-related Inborn error of amino acid metabolism ABCD1 Adrenoleukodystrophy 300371 300100 Miscellaneous RUSP multisystem (C) * diseases ABCD4 Methylmalonic aciduria and 603214 614857 Metabolic disorder - homocystinuria, cblJ type Inborn error of amino acid metabolism ACAD8 Isobutyryl-CoA 604773 611283 Metabolic Disorder - RUSP dehydrogenase deficiency Inborn error of (S) ** organic acid metabolism ACAD9 acyl-CoA dehydrogenase-9 611103 611126 Metabolic Disorder - (ACAD9) deficiency Inborn error of fatty acid metabolism ACADM Acyl-CoA dehydrogenase, 607008 201450 Metabolic Disorder - RUSP medium chain, deficiency of Inborn error of fatty (C) acid metabolism ACADS Acyl-CoA dehydrogenase, 606885 201470 Metabolic Disorder - RUSP short-chain, deficiency of Inborn error of fatty (S) acid metabolism ACADSB 2-methylbutyrylglycinuria 600301 610006 Metabolic Disorder - RUSP Inborn error of (S) organic acid metabolism ACADVL very long-chain acyl-CoA 609575 201475 Metabolic Disorder - RUSP dehydrogenase deficiency Inborn error of fatty (C) acid metabolism ACAT1 Alpha-methylacetoacetic 607809 203750 Metabolic Disorder - RUSP aciduria Inborn error of (C) organic acid metabolism ACSF3 Combined malonic and 614245 614265 Metabolic Disorder - methylmalonic aciduria Inborn error of organic acid metabolism 1 ADA Severe combined 608958 102700 Primary RUSP immunodeficiency due
    [Show full text]
  • Amyloid Like Aggregates Formed by the Self-Assembly of Proline And
    Please do not adjust margins Journal Name ARTICLE Amyloid like aggregates formed by the self-assembly of proline and Hydroxyproline Bharti Koshtia, Ramesh Singh Chilwalb, Vivekshinh Kshtriyaa, Shanka Walia c, Dhiraj Bhatiac, K.B. Joshib* and Nidhi Goura* a Department of Chemistry, Indrashil University, Mehsana, Gujarat, India b Department of Chemistry, Dr. Hari Singh Gour, Sagar University, Madhya Pradesh, India c Biological Engineering Discipline, Indian Institute of Technology Gandhinagar, Gujarat, India Abstract: Single amino acid based self-assembled structures have gained a lot of interest recently owing to their pathological significance in metabolite disorders. There is plethora of significant research work which illustrate amyloid like characteristics of assemblies formed by aggregation of single amino acids like Phenylalanine, Tyrosine, Tryptophan, Cysteine and Methionine and its implications in pathophysiology of single amino acid metabolic disorders like phenylketonuria, tyrosinemia, hypertryptophanemia, cystinuria and hypermethioninemia respectively. Hence, studying aggregation behaviour of single amino acids is very crucial to assess the underlying molecular mechanism behind metabolic disorders. In this manuscript we report for the very first time the aggregation properties of non-aromatic single amino acids Hydroxy-proline and Proline. The morphologies of these were studied extensively by Optical microscopy (OM), ThT binding fluorescence microscopy, Scanning Electron Microscopy (SEM) and Atomic force microscopy (AFM). It can be assessed that these amino acids form globular structures at lower concentrations and gradually changes to tape like structures on increasing the This journal is © The Royal Society of Chemistry 20xx J. Name., 2013, 00, 1-3 | 1 Please do not adjust margins Please do not adjust margins Journal Name ARTICLE concentration as assessed by AFM.
    [Show full text]
  • Amino Acid Disorders
    471 Review Article on Inborn Errors of Metabolism Page 1 of 10 Amino acid disorders Ermal Aliu1, Shibani Kanungo2, Georgianne L. Arnold1 1Children’s Hospital of Pittsburgh, University of Pittsburgh School of Medicine, Pittsburgh, PA, USA; 2Western Michigan University Homer Stryker MD School of Medicine, Kalamazoo, MI, USA Contributions: (I) Conception and design: S Kanungo, GL Arnold; (II) Administrative support: S Kanungo; (III) Provision of study materials or patients: None; (IV) Collection and assembly of data: E Aliu, GL Arnold; (V) Data analysis and interpretation: None; (VI) Manuscript writing: All authors; (VII) Final approval of manuscript: All authors. Correspondence to: Georgianne L. Arnold, MD. UPMC Children’s Hospital of Pittsburgh, 4401 Penn Avenue, Suite 1200, Pittsburgh, PA 15224, USA. Email: [email protected]. Abstract: Amino acids serve as key building blocks and as an energy source for cell repair, survival, regeneration and growth. Each amino acid has an amino group, a carboxylic acid, and a unique carbon structure. Human utilize 21 different amino acids; most of these can be synthesized endogenously, but 9 are “essential” in that they must be ingested in the diet. In addition to their role as building blocks of protein, amino acids are key energy source (ketogenic, glucogenic or both), are building blocks of Kreb’s (aka TCA) cycle intermediates and other metabolites, and recycled as needed. A metabolic defect in the metabolism of tyrosine (homogentisic acid oxidase deficiency) historically defined Archibald Garrod as key architect in linking biochemistry, genetics and medicine and creation of the term ‘Inborn Error of Metabolism’ (IEM). The key concept of a single gene defect leading to a single enzyme dysfunction, leading to “intoxication” with a precursor in the metabolic pathway was vital to linking genetics and metabolic disorders and developing screening and treatment approaches as described in other chapters in this issue.
    [Show full text]
  • Formula Name Category Description Qualifying
    Memorandum #17-079 TO: WIC Regional Directors WIC Local Agency Directors FROM: Amanda Hovis, Director Nutrition Education/Clinic Services Unit Nutrition Services Section DATE: August 4, 2017 SUBJECT: Revised Formula Approval Resources Posted The formula approval resources have been revised to reflect the recent clinic formula table changes and will be posted to the DSHS WIC website. You will be able view them at the following link under “Formula Approval Resources” once they are posted. http://www.dshs.texas.gov/wichd/nut/foods-nut.shtm The following documents have been revised for July, 2017. Presently, they are attached to this memo as PDF files. 1. Texas WIC Formulary 2. Formula Code List 3. Texas WIC Formula Maximum Quantity Table 4. Nutrition Assessment Requirements Guide If you have questions or require additional information, contact Pat Koym, Formula Specialist, at [email protected] or 512-341-4578. This institution is an equal opportunity provider TEXAS WIC FORMULARY AND MEDICAL REASONS FOR ISSUANCE JULY 2017 Formula Category Description Qualifying Conditions Staff Instructions - May issue for 1 cert Manufacturer Name period unless otherwise indicated Alfamino Infant Elemental 20 cal/oz when mixed 1 scoop to 1 oz 1) Malabsorption syndrome Formula history required. Nestle water; hypoallergenic amino acid 2) GI impairment When requested for food allergy - a failed trial of a protein based elemental. 43% of fat is MCT 3) GER/GERD hydrolysate (Extensive HA, Nutramigen, Alimentum, or oil; Similar to Elecare DHA/ARA, 4) Food allergies (cow's milk, soy or Pregestimil) is recommended before issuing unless medically Neocate DHA/ARA and PurAmino.
    [Show full text]
  • Microsoft Powerpoint
    Remethylation, B12, folate, biotin, thiamine & pyridoxine disorders Diana Ballhausen Paediatric Metabolic Unit, University Children’s Hospital Lausanne (CHUV), Switzerland Modified from Andrew Morris, Manchester Outline • Homocystinurias – Classical homocystinuria – Remethylation defects • Cerebral folate deficiencies • Biotin disorders • Thiamine disorders • Pyridoxine disorders Homocystinurias Classical Homocystinuria (HCU) • CBS deficiency 1/300’000 – Commoner in Ireland 1/65’000 & Qatar 1/2’000 Remethylation defects • MTHFR deficiency • Defects of methylcobalamin synthesis – Esp. CblC disease – Incidence unknown, 1/100’000 in small USA study – Commoner than classical HCU in Southern Europe All are autosomal recessive Tetrahydrofolate Methionine Methyl- Methionine Methyl cobalamin synthase group Methyl- Homocysteine tetrahydrofolate Serine Cystathionine B6 β-synthase Cystathionine Cysteine Remethylation defects Tetrahydrofolate Methionine Methyl group Methyl- Homocysteine tetrahydrofolate Classical homocystinuria Cystathionine Cysteine Classic homocystinuria – clinics –Learning difficulties –Dislocated lenses –Marfanoid habitus –Unexplained thromboses –Psychoses (esp. if falling IQ, poor response to treatment) Marfan Classical syndrome Homocystinuria • Skeletal changes • Skeletal changes • Lens dislocation • Lens dislocation • Learning difficulties • Seizures etc • Aortic dilatation • Thromboembolism /dissection • Symptomatic • Specific treatment treatment esp CVS Remethylation Defects Serine Glycine ATP Tetrahydro- Methionine folate
    [Show full text]
  • A New Inborn Error of Metabolism Associated with Mental Deficiency
    Arch Dis Child: first published as 10.1136/adc.38.201.425 on 1 October 1963. Downloaded from Arch. Dis. Childl., 1963, 38, 425. HOMOCYSTINURIA: A NEW INBORN ERROR OF METABOLISM ASSOCIATED WITH MENTAL DEFICIENCY BY NINA A. J. CARSON*, D. C. CUSWORTHt, C. E. DENTt, C. M. B. FIELD+, D. W. NEILL§ and R. G. WESTALLt From Royal Belfast Hospital for Sick Children, University College Hospital Medical School, London, Belfast City Hospital, and Royal Victoria Hospital, Belfast (RECEIVED FOR PUBLICATION MARCH 20, 1963) It is now becoming generally noted that many imagine that sooner or later similar metabolic diseases of hitherto unknown aetiology are due to disorders will be discovered that will involve the inborn errors of metabolism in the sense in which remaining amino acids. Garrod (1923) used this term. Although these The present study concerns a further presumed diseases cover the whole of medicine it has been inborn error of amino acid metabolism, this time particularly gratifying to note that mental disease, involving the sulphur-containing compound homo- especially mental deficiency which currently is cystine. The discovery arose from the submission responsible for one of our main medical problems, by one of us (C.M.B.F.) of urine from two mentally has been especially involved in these recent dis- retarded sibs whose clinical features were thought coveries. In particular, a number of inborn errors to suggest a possible metabolic basis. The urine of metabolism causing mental disease have been was sent for examination to others of us (N.A.J.C. described recently in which the disorder concerned and D.W.N.) who were currently running a meta- copyright.
    [Show full text]
  • Living with Classical Homocystinuria
    Living with Classical Homocystinuria This brochure will help you understand what classical homocystinuria is, how it affects your body, and how you can manage your condition A few words about this brochure What is homocystinuria? Has your doctor diagnosed you or your child You may have heard the word “homocystinuria” with homocystinuria (HO-mo-SIS-tin-YUR- for the first time when your doctor talked to ee-uh)? There are three types of genetic you about possibly having this condition. disorders that cause homocystinuria. Each Homocystinuria is a rare disorder involving type has a different cause and different the amino acid homocysteine (HO-mo-SIS- health issues. This brochure will talk about teen). Amino acids are building blocks that your classical homocystinuria. The information body uses to make proteins. Homocystinuria will help you understand classical occurs when there is a buildup of the amino acid homocystinuria and how you can manage homocysteine in your blood and urine. your condition. High levels of homocysteine can be harmful to your body. You may be reading this brochure because you have classical homocystinuria or Why is there homocysteine because your child or a sibling or a friend in your body? has it. Or perhaps you’re a healthcare professional. Please note the brochure It starts with the foods you eat. Your body addresses “you,” but it’s understood that makes homocysteine from another amino acid “you,” the reader, may not have classical called methionine (meh-THIGH-uh-neen). Most homocystinuria yourself. foods contain some methionine. But high-protein foods such as meat, fish, eggs, or cheese tend to have the most methionine.
    [Show full text]
  • Diagnosis and Therapeutic Monitoring of Inborn Errors of Metabolism in 100,077 Newborns from Jining City in China
    Yang et al. BMC Pediatrics (2018) 18:110 https://doi.org/10.1186/s12887-018-1090-2 RESEARCHARTICLE Open Access Diagnosis and therapeutic monitoring of inborn errors of metabolism in 100,077 newborns from Jining city in China Chi-Ju Yang1, Na Wei2, Ming Li1, Kun Xie3, Jian-Qiu Li3, Cheng-Gang Huang3, Yong-Sheng Xiao3, Wen-Hua Liu3 and Xi-Gui Chen1* Abstract Background: Mandatory newborn screening for metabolic disorders has not been implemented in most parts of China. Newborn mortality and morbidity could be markedly reduced by early diagnosis and treatment of inborn errors of metabolism (IEM). Methods of screening for IEM by tandem mass spectrometry (MS/MS) have been developed, and their advantages include rapid testing, high sensitivity, high specificity, high throughput, and low sample volume (a single dried blood spot). Methods: Dried blood spots of 100,077 newborns obtained from Jining city in 2014-2015 were screened by MS/ MS. The screening results were further confirmed by clinical symptoms and biochemical analysis in combination with the detection of neonatal deficiency in organic acid, amino acid, or fatty acid metabolism and DNA analysis. Results: The percentages of males and females among the 100,077 infants were 54.1% and 45.9%, respectively. Cut-off values were established by utilizing the percentile method. The screening results showed that 98,764 newborns were healthy, and 56 out of the 1313 newborns with suspected IEM were ultimately diagnosed with IEM. Among these 56 newborns, 19 (1:5267) had amino acid metabolism disorders, 26 (1:3849) had organic acid metabolism disorders, and 11 (1:9098) had fatty acid oxidation disorders.
    [Show full text]
  • Web-Based Newborn Screening System for Metabolic Diseases: Machine Learning Versus Clinicians
    JOURNAL OF MEDICAL INTERNET RESEARCH Chen et al Original Paper Web-Based Newborn Screening System for Metabolic Diseases: Machine Learning Versus Clinicians Wei-Hsin Chen1, MS; Sheau-Ling Hsieh2, PhD; Kai-Ping Hsu3, PhD; Han-Ping Chen4, BS; Xing-Yu Su1, BS; Yi-Ju Tseng1, BS; Yin-Hsiu Chien5, MD, PhD; Wuh-Liang Hwu5, MD, PhD; Feipei Lai1,4,6, PhD 1National Taiwan University, Graduate Institute of Biomedical Electronics and Bioinformatics, Taipei, Taiwan 2National Chiao Tung University, Hsinchu, Taiwan 3National Taiwan University, Computer and Information Networking Center, Taipei, Taiwan 4National Taiwan University, Department of Computer Science and Information Engineering, Taipei, Taiwan 5National Taiwan University Hospital, Department of Medical Genetics, Taipei, Taiwan 6National Taiwan University, Department of Electrical Engineering, Taipei, Taiwan Corresponding Author: Sheau-Ling Hsieh, PhD National Chiao Tung University 1001, University Road, Hsinchu, Taiwan Hsinchu, 30010 Taiwan Phone: 886 3 513 1351 Fax: 886 3 571 4031 Email: [email protected] Abstract Background: A hospital information system (HIS) that integrates screening data and interpretation of the data is routinely requested by hospitals and parents. However, the accuracy of disease classification may be low because of the disease characteristics and the analytes used for classification. Objective: The objective of this study is to describe a system that enhanced the neonatal screening system of the Newborn Screening Center at the National Taiwan University Hospital. The system was designed and deployed according to a service-oriented architecture (SOA) framework under the Web services .NET environment. The system consists of sample collection, testing, diagnosis, evaluation, treatment, and follow-up services among collaborating hospitals.
    [Show full text]