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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.
Efrain Test MCADD Test Adrenoleukodystrophy (ALD) Argininemia Argininosuccinic Aciduria Beta-Ketothiolase Deficiency Biotinidase Deficiency CACT & CPT II Deficiencies Carnitine Palmitoyltransferase 1A (CPT 1) Deficiency Carnitine Uptake Defect Citrullinemia Type 1 Citrullinemia Type II & Citrin Deficiency Congenital Adrenal Hyperplasia Congenital Hypothyroidism Critical Congenital Heart Disease (CCHD) Cystic Fibrosis Fabry Disease 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 (Classic) Isobutyryl-CoA Dehydrogenase Deficiency Isovaleric Acidemia LCHAD/TFP Deficiency Malonic Acidemia Maple Syrup Urine Disease Medium-Chain Acyl-CoA Dehydrogenase Deficiency (MCADD) Methylmalonic Acidemias Phenylketonuria (PKU) Pompe Disease Propionic Acidemia Pyruvate Carboxylase Deficiency Severe Combined Immunodeficiency (SCID) Short/Branched Chain Acyl-CoA Dehydrogenase Deficiency Short-Chain Acyl-CoA Dehydrogenase Deficiency (SCADD)-Draft Sickle Cell Disease Spinal Muscular Atrophy 3MCC Deficiency 3-Methylglutaconic Aciduria (3MGA) 2M3HBA Deficiency Tyrosinemia Type 1 VLCADD
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What is the medical home?

The medical home is not a house, office, or hospital, but rather an approach to providing comprehensive primary care. The Medical Home approach focuses on the patient, their family, and their community, and aims to improve outcomes related to health, relationships, education, and abilities. In a medical home, a primary care clinician and her/his team work as a team with the family/patient to make sure that the medical and non-medical needs of the child/youth are met.

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