1. Home
  2. Physicians & Professionals
  3. Newborn Disorders

NEWBORN DISORDERS

Information to guide primary care clinicians in responding to their patients' positive Newborn Screening tests. Includes background, clinical findings, testing details, finding local services, and information for families.
Adrenoleukodystrophy (ALD) Arginase Deficiency Argininosuccinic Aciduria Beta-Ketothiolase Deficiency Biotinidase Deficiency CACT Deficiency Carnitine Uptake Defect Citrullinemia Congenital Adrenal Hyperplasia Congenital Hypothyroidism CPT1 Deficiency Critical Congenital Heart Disease Cystic Fibrosis Galactosemia Glutaric Acidemia Type 1 Glutaric Acidemia Type 2 Guanidinoacetate Methyltransferase (GAMT) Deficiency Hearing Loss & Deafness HMG-CoA Lyase Deficiency Holocarboxylase/Multiple Carboxylase Deficiency Homocystinuria Isobutyryl-CoA Dehydrogenase Deficiency Isovaleric Acidemia LCHAD/TFP Deficiency Malonic Acidemia Maple Syrup Urine Disease MCADD Methylmalonic Acidemias Phenylketonuria (PKU) Pompe Disease Propionic Acidemia Severe Combined Immunodeficiency (SCID) Short/Branched Chain Acyl-CoA Dehydrogenase Deficiency Short-Chain Acyl-CoA Dehydrogenase Deficiency (SCADD) Sickle Cell Disease Spinal Muscular Atrophy 3MCC Deficiency 3-Methylglutaconic Aciduria (3MGA) 2M3HBA Deficiency Tyrosinemia Type 1 VLCADD
Learn More About
What is the medical home?

Dolor sit amet, consectetur adipiscing elit, sed do eiusmod tempor incididunt ut labore et dolore magna aliqua consectetur adipiscing elit, sed do eiusmod tempor incididunt ut.

Register now and create your own personalized lists.

Dolor sit amet, consectetur adipiscing elit, sed do eiusmod tempor incididunt ut labore et dolore magna aliqua consectetur adipiscing elit, sed do eiusmod tempor incididunt ut.