{"id":9334,"date":"2025-03-01T13:55:17","date_gmt":"2025-03-01T18:55:17","guid":{"rendered":"https:\/\/dhss.delaware.gov\/dph\/dphnsp3\/"},"modified":"2025-03-02T00:18:50","modified_gmt":"2025-03-02T05:18:50","slug":"dphnsp3","status":"publish","type":"page","link":"https:\/\/dhss.delaware.gov\/dph\/chca\/dphnsp3\/","title":{"rendered":"chca\/dphnsp3 ~  Information of NSP Disorders  &#8211; Delaware Health and Social Services &#8211; State of Delaware"},"content":{"rendered":"<div data-swiftype-index=\"true\">\n\n\n\n\n\n  <br>\n\n\n  \n\n\n  <div class=\"container\" id=\"main_header\">\n\n\n    <!-- BEGIN readspeaker div -->\n\n\n    <div class=\"rs_skip rsbtn rs_preserve\" id=\"readspeaker_button1\">\n\n\n      <a accesskey=\"L\" class=\"rsbtn_play\" href=\"https:\/\/app-na.readspeaker.com\/cgi-bin\/rsent?customerid=7262&#038;lang=en_us&#038;readid=main_content&#038;url=https:\/\/dhss.delaware.gov\/dph\/chca\/dphnsp3.html\" title=\"Listen to this page using ReadSpeaker\">\n\n\n       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title=\"Delaware Health and Social Services Twitter Account\"><i class=\"fa fa-twitter-square fa-lg\"><\/i> Twitter<\/a><\/li>\n        <!-- <li class=\"googleplus\"><a href=\"#\"><i class=\"fa fa-google-plus-square fa-lg\"><\/i> Google +<\/a><\/li>\n        <li class=\"flickr\"><a href=\"#\"><i class=\"fa fa-flickr fa-lg\"><\/i> Flickr<\/a><\/li>\n        <li class=\"youtube\"><a href=\"#\"><i class=\"fa fa-youtube-square fa-lg\"><\/i> Youtube<\/a><\/li>\n        <li class=\"instagram\"><a href=\"#\"><i class=\"fa fa-instagram fa-lg\"><\/i> Instagram<\/a><\/li>\n        <li class=\"linkedin\"><a href=\"#\"><i class=\"fa fa-linkedin-square fa-lg\"><\/i> Linkedin<\/a><\/li>\n        <li class=\"pinterest\"><a href=\"#\"><i class=\"fa fa-pinterest-square fa-lg\"><\/i> Pinterest<\/a><\/li> -->\n      <\/ul>\n    <\/li>\n  <\/ul>\n\n\n              <\/div>\n\n\n            <\/div>\n\n\n          <\/div>\n\n\n        <\/div><br>\n\n\n      <\/div>\n\n\n\n\n\n      <div class=\"col-md-9\" id=\"main_content\"> \n\n\n  <!--[type=HTMLEDIT name=\"Content\"]-->\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n<h2>\n\n\n\n  Metabolic Disorders\n\n\n\n<\/h2>\n\n\n\n<ul>\n\n\n\n  <li>\n\n\n\n    <strong>TRADITIONAL DISORDERS<\/strong>\n\n\n\n    <ol>\n\n\n\n      <li>CH &#8211; Congenital Hypothyroidism\n\n\n\n      <\/li>\n\n\n\n      <li>CAH &#8211; Congenital Adrenal Hyperplasia\n\n\n\n      <\/li>\n\n\n\n      <li>GAL &#8211; Galactosemia\n\n\n\n      <\/li>\n\n\n\n      <li>HGB &#8211; Hemoglobinopathies &#8211; SS Disease, SC Disease, Variant Hgb\n\n\n\n      <\/li>\n\n\n\n      <li>BIOT &#8211; Biotinidase Deficiency\n\n\n\n      <\/li>\n\n\n\n      <li>CF &#8211; Cystic Fibrosis\n\n\n\n      <\/li>\n\n\n\n    <\/ol>\n\n\n\n  <\/li>\n\n\n\n  <li>\n\n\n\n    <strong>AMINO ACID\/UREA CYCLE DISORDERS (MS\/MS)<\/strong>\n\n\n\n    <ol start=\"7\">\n\n\n\n      <li>PKU &#8211; Phenylketonuria\n\n\n\n      <\/li>\n\n\n\n      <li>HPHE &#8211; Hyperphenylalanemia\n\n\n\n      <\/li>\n\n\n\n      <li>MSUD &#8211; Maple Syrup Urine Disease\n\n\n\n      <\/li>\n\n\n\n      <li>HCYS &#8211; Homocystinuria\n\n\n\n      <\/li>\n\n\n\n      <li>HMET &#8211; Hypermethioninemia\n\n\n\n      <\/li>\n\n\n\n      <li>TYR &#8211; Tyrosinemia, Type I\n\n\n\n      <\/li>\n\n\n\n      <li>TYR &#8211; Tyrosinemia, Type II\n\n\n\n      <\/li>\n\n\n\n      <li>TYR &#8211; Tyrosinemia, Type III\n\n\n\n      <\/li>\n\n\n\n      <li>ARG &#8211; Argininemia\n\n\n\n      <\/li>\n\n\n\n      <li>ASL &#8211; Argininosuccinate Lyase Deficiency\n\n\n\n      <\/li>\n\n\n\n      <li>CIT &#8211; Argininosuccinate Synthetase Deficiency (Citrullinemia)\n\n\n\n      <\/li>\n\n\n\n    <\/ol>\n\n\n\n  <\/li>\n\n\n\n  <li>\n\n\n\n    <strong>ORGANIC ACID DISORDERS (MS\/MS)<\/strong>\n\n\n\n    <ol start=\"18\">\n\n\n\n      <li>GA-1 &#8211; Glutaric Acidemia, Type I\n\n\n\n      <\/li>\n\n\n\n      <li>PA &#8211; Proprionic Acidemia\n\n\n\n      <\/li>\n\n\n\n      <li>MMA &#8211; Methylmalonic Acidemia\n\n\n\n      <\/li>\n\n\n\n      <li>MCD &#8211; Multiple Carboxylase Deficiency\n\n\n\n      <\/li>\n\n\n\n      <li>IVA &#8211; Isovaleric Acidemia\n\n\n\n      <\/li>\n\n\n\n      <li>2-MBCD &#8211; 2-Methylbutyryl-CoA Dehydrogenase Deficiency\n\n\n\n      <\/li>\n\n\n\n      <li>3-MCC &#8211; 3-Methylcrotonyl-CoA Carboxylase Deficiency\n\n\n\n      <\/li>\n\n\n\n      <li>HMG &#8211; 3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency\n\n\n\n      <\/li>\n\n\n\n      <li>BKT &#8211; Mitochondrial Acetoacetyl-CoA Thiolase Deficiency\n\n\n\n      <\/li>\n\n\n\n      <li>IBCD &#8211; Isobutyryl-CoA Dehydrogenase Deficiency\n\n\n\n      <\/li>\n\n\n\n    <\/ol>\n\n\n\n  <\/li>\n\n\n\n  <li>\n\n\n\n    <strong>FATTY ACID OXIDATION DISORDERS (MS\/MS)<\/strong>\n\n\n\n    <ol start=\"28\">\n\n\n\n      <li>MCAD &#8211; Medium Chain Acyl-CoA Dehydrogenase Deficiency\n\n\n\n      <\/li>\n\n\n\n      <li>CPT II &#8211; Carnitine Palmitoyltransferase II Deficiency\n\n\n\n      <\/li>\n\n\n\n      <li>CAT &#8211; Carnitine\/Acylcarnitine Translocase Deficiency\n\n\n\n      <\/li>\n\n\n\n      <li>GA II &#8211; Glutaric Acidemia, Type II\n\n\n\n      <\/li>\n\n\n\n      <li>MADD &#8211; Multiple Acyl-CoA Dehydrogenase Deficiency\n\n\n\n      <\/li>\n\n\n\n      <li>SCAD &#8211; Short-Chain Acyl-CoA Dehydrogenase Deficiency\n\n\n\n      <\/li>\n\n\n\n      <li>LCHAD &#8211; Long-Chain Hydroxyacyl-CoA Dehydrogenase Deficiency\n\n\n\n      <\/li>\n\n\n\n      <li>TFP &#8211; Trifunctional Protein Deficiency\n\n\n\n      <\/li>\n\n\n\n      <li>VLCAD &#8211; Very Long-Chain Acyl-CoA Dehydrogenase Deficiency\n\n\n\n      <\/li>\n\n\n\n      <li>CUD &#8211; Carnitine Uptake Deficiency\n\n\n\n      <\/li>\n\n\n\n    <\/ol>\n\n\n\n  <\/li>\n\n\n\n  <li>\n\n\n\n    <strong>OTHER<\/strong>\n\n\n\n    <ol start=\"38\">\n\n\n\n      <li>NH &#8211; Newborn Hearing Screening\n\n\n\n      <\/li>\n\n\n\n      <li>SCID &#8211; Severe Combined Immunodeficiency\n\n\n\n      <\/li>\n\n\n\n      <li>CCHD &#8211; Critical Congenital Heart Disease (January 2013)\n\n\n\n      <\/li>\n\n\n\n      <li>MPS-I &#8211; Mucopolysaccharidosis Type I\n\n\n\n      <\/li>\n\n\n\n      <li>Pompe &#8211; Glycogen Storage Disease Type II\n\n\n\n      <\/li>\n\n\n\n      <li>X-ALD &#8211; X-linked Adrenoleukodystrophy\n\n\n\n      <\/li>\n\n\n\n      <li>SMA &#8211; Spinal Muscular Atrophy\n\n\n\n    <\/li><\/ol>\n\n\n\n  <\/li>\n\n\n\n<\/ul>\n\n\n\n\n\n\n\n<table class=\"table table-condensed table-hover\">\n\n\n\n  <caption>\n\n\n\n    <strong>Estimated Frequency per Live Births of Disorders Screened for by<br>\n\n\n\n    Delaware Newborn Screening Program<\/strong>\n\n\n\n  <\/caption>\n\n\n\n  <tbody>\n\n\n\n    <tr>\n\n\n\n      <th scope=\"col\">\n\n\n\n        Disorder\n\n\n\n      <\/th>\n\n\n\n      <th scope=\"col\">\n\n\n\n        Frequency\n\n\n\n      <\/th>\n\n\n\n    <\/tr>\n\n\n\n    <tr>\n\n\n\n      <td>\n\n\n\n        Phenylketonuria (PKU)\n\n\n\n      <\/td>\n\n\n\n      <td>\n\n\n\n        \u00a01:15,000\n\n\n\n      <\/td>\n\n\n\n    <\/tr>\n\n\n\n    <tr>\n\n\n\n      <td>\n\n\n\n        Congenital Hypothyroidism (CH)\n\n\n\n      <\/td>\n\n\n\n      <td>\n\n\n\n        \u00a01:4,000\n\n\n\n      <\/td>\n\n\n\n    <\/tr>\n\n\n\n    <tr>\n\n\n\n      <td>\n\n\n\n        Galactosemia\n\n\n\n      <\/td>\n\n\n\n      <td>\n\n\n\n        \u00a01:45,000\n\n\n\n      <\/td>\n\n\n\n    <\/tr>\n\n\n\n    <tr>\n\n\n\n      <td>\n\n\n\n        Hemoglobinopathies\n\n\n\n      <\/td>\n\n\n\n      <td>\n\n\n\n        \u00a01:400 (African Ancestory)\n\n\n\n      <\/td>\n\n\n\n    <\/tr>\n\n\n\n    <tr>\n\n\n\n      <td>\n\n\n\n        Congenital Adrenal Hyperplasia (CAH)\n\n\n\n      <\/td>\n\n\n\n      <td>\n\n\n\n        \u00a01:12,000\n\n\n\n      <\/td>\n\n\n\n    <\/tr>\n\n\n\n    <tr>\n\n\n\n      <td>\n\n\n\n        Medium Chain Acyl CO-A Dehydrogenase Deficiency (MCAD)\n\n\n\n      <\/td>\n\n\n\n      <td>\n\n\n\n        \u00a01:15,000\n\n\n\n      <\/td>\n\n\n\n    <\/tr>\n\n\n\n    <tr>\n\n\n\n      <td>\n\n\n\n        Other Fatty Acid Oxidation (FAO) Disorders\n\n\n\n      <\/td>\n\n\n\n      <td>\n\n\n\n        \u00a01:15,000\n\n\n\n      <\/td>\n\n\n\n    <\/tr>\n\n\n\n    <tr>\n\n\n\n      <td>\n\n\n\n        Maple Syrup Urine Disease (MSUD)\n\n\n\n      <\/td>\n\n\n\n      <td>\n\n\n\n        \u00a01:40,000\n\n\n\n      <\/td>\n\n\n\n    <\/tr>\n\n\n\n    <tr>\n\n\n\n      <td>\n\n\n\n        Homocystinuria\n\n\n\n      <\/td>\n\n\n\n      <td>\n\n\n\n        \u00a01:70,000\n\n\n\n      <\/td>\n\n\n\n    <\/tr>\n\n\n\n    <tr>\n\n\n\n      <td>\n\n\n\n        Certain other disorders of amino acid metabolism (not including\u00a0 Ornithine Transcarbamylase Deficiency (OTC) 1\n\n\n\n      <\/td>\n\n\n\n      <td>\n\n\n\n        \u00a01:20,000\n\n\n\n      <\/td>\n\n\n\n    <\/tr>\n\n\n\n    <tr>\n\n\n\n      <td>\n\n\n\n        Glutaric Aciduria 1\n\n\n\n      <\/td>\n\n\n\n      <td>\n\n\n\n        \u00a01:100,000 (higher in Amish)\n\n\n\n      <\/td>\n\n\n\n    <\/tr>\n\n\n\n    <tr>\n\n\n\n      <td>\n\n\n\n        Other Organic Acid Disorders\n\n\n\n      <\/td>\n\n\n\n      <td>\n\n\n\n        \u00a01:20,000\n\n\n\n      <\/td>\n\n\n\n    <\/tr>\n\n\n\n    <tr>\n\n\n\n      <td>\n\n\n\n        Biotinidase Deficiency\n\n\n\n      <\/td>\n\n\n\n      <td>\n\n\n\n        \u00a01:60,000\n\n\n\n      <\/td>\n\n\n\n    <\/tr>\n\n\n\n    \n\n\n\n      <tr><td>\n\n\n\n        Severe Combined Immunodeficiency (SCID)\n\n\n\n      <\/td>\n\n\n\n      <td>\n\n\n\n        \u00a01:100,000\n\n\n\n      <\/td>\n\n\n\n    <\/tr>\n\n\n\n    \n\n\n\n      <tr><td>\n\n\n\n       Mucopolysaccharidosis Type I (MPS-I)\n\n\n\n      <\/td>\n\n\n\n      <td>\n\n\n\n        \u00a01:100,000\n\n\n\n      <\/td>\n\n\n\n    <\/tr>\n\n\n\n    \n\n\n\n      <tr><td>\n\n\n\n       Glycogen Storage Disease Type II (Pompe)\n\n\n\n      <\/td>\n\n\n\n      <td>\n\n\n\n        \u00a01:40,000\n\n\n\n      <\/td>\n\n\n\n    <\/tr>\n\n\n\n    \n\n\n\n      <tr><td>\n\n\n\n       X-linked Adrenoleukodystrophy (X-ALD)  \n\n\n\n      <\/td>\n\n\n\n      <td>\n\n\n\n        \u00a01:50,000\n\n\n\n      <\/td>\n\n\n\n    <\/tr>\n\n\n\n    \n\n\n\n      <tr><td>\n\n\n\n      Spinal Muscular Atrophy (SMA)\n\n\n\n      <\/td>\n\n\n\n      <td>\n\n\n\n        \u00a01:10,000\n\n\n\n  <\/td><\/tr><\/tbody>\n\n\n\n<\/table>\n\n\n\n<ul>\n\n\n\n  <li>\n\n\n\n    <a href=\"dphnsp1.html\">Return to the Newborn Screening Home Page<\/a>\n\n\n\n  <\/li>\n\n\n\n<\/ul>  <!--[END]-->\n\n\n  \n\n\n      <\/div>\n\n\n    <\/div>\n\n\n  <\/div><!-- \/container -->\n\n\n<\/div>","protected":false},"excerpt":{"rendered":"<p>Listen Delaware Newborn Screening Public Health Menu Home About About DPH Sections &#038; Programs Office Locations Contact Info Calendar Services A-Z Services Air &#038; Water Quality Birth, Death, &#038; Marriage Records Clinics Health Data &#038; Statistics Emergency Preparedness Health &#038; Wellness Healthy Homes Healthy Workplaces Laboratory Restaurant Inspections Screening and Testing WIC Additional Services Information 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