minnesota newborn screening program

Fact Sheets

The Newborn Screening Program has written informational family fact sheets about some of the disorders found by newborn screening. It is important to keep in mind that a baby who has a positive newborn screen needs more testing before we know for sure if the baby has a problem.

Medical fact sheets are meant to provide health care providers with recommended short-term actions as well as some basic information about the disorder.

Disorder Abbreviation Family Fact Sheets Medical Fact Sheets
Amino Acid Disorders      
Argininosuccinic Acidemia ASA ASA family fact sheet
(PDF: 49KB/1 page)		 ASA medical fact sheet
(PDF: 107KB/1 page)
Citrullinemia CIT CIT family fact sheet
(PDF: 50KB/1 page)		 CIT medical fact sheet
(PDF: 107KB/1 page)
Maple Syrup Urine Disease
(branched-chain ketoaciduria)		 MSUD MSUD (branched-chain ketoaciduria) family fact sheet
(PDF: 50KB/1 page)		 MSUD (branched-chain ketoaciduria) medical fact sheet
(PDF: 107KB/1 page)
Phenylketonuria PKU PKU family fact sheet
(PDF: 50KB/1 page)		 PKU medical fact sheet
(PDF: 107KB/1 page)
 
Endocrine Disorders      
Congenital Adrenal Hyperplasia CAH CAH family fact sheet
(PDF: 93KB/1 page)		 CAH medical fact sheet
(PDF: 107KB/1 page)
Congenital Hypothyroidism   Congenital Hypothyroidism family fact sheet
(PDF: 50KB/1 page)		 Congenital Hypothyroidism medical fact sheet
(PDF: 107KB/1 page)
  Borderline Congenital Hypothyroidism Results     Borderline Congenital Hypothyroidism Results medical fact sheet
(PDF: 82KB/1 page)
 
Fatty Acid Oxidation Disorders      
Carnitine Uptake/Transport Deficiency CUD/CTD CUD/CTD family fact sheet
(PDF: 90KB/1 page)		 CUD/CTD medical fact sheet
(PDF: 108KB/1 page)
Long-chain 3-hydroxy acyl-CoA
dehydrogenase deficiency		 LCHAD LCHAD family fact sheet
(PDF: 111KB/1 page)		 LCHAD medical fact sheet
(PDF: 109KB/1 page)
Medium-chain acyl-CoA dehydrogenase deficiency MCAD MCAD family fact sheet
(PDF: 80KB/1 pages)		 MCAD medical fact sheet
(PDF: 108KB/1 pages)
Short-chain acyl-CoA
dehydrogenase deficiency		 SCAD SCAD family fact sheet
(PDF: 118KB/1 page)		 SCAD medical fact sheet
(PDF: 107KB/1 page)
Very long-chain acyl-CoA dehydrogenase deficiency VLCAD VLCAD family fact sheet
(PDF: 80K/1 page)		 VLCAD medical fact sheet
(PDF: 108KB/1 page)
 
Hemoglobinopathy Disorders      
Hemoglobin E/beta thalassemia     Hemoglobin E/beta thalassemia medical fact sheet
(PDF: 109 KB/1 page)
Sickle Cell Disease   Sickle Cell Disease family fact sheet
(PDF: 83 KB/1 page)		 Sickle Cell Disease medical fact sheet
(PDF: 107 KB/1 page)
  Sickle Cell Disease Emergency Guidelines     Sickle Cell Disease Emergency Guidelines
(PDF: 45 KB/1 page)
 
Organic Acid Disorders      
2-methylbutyryl-CoA dehydrogenase deficiency SBCAD SBCAD family fact sheet
(PDF: 89KB/1 page)		 SBCAD medical fact sheet
(PDF: 108KB/1 page)
3-methylcrotonyl-CoA carboxylase deficiency 3-MCC 3-MCC family fact sheet
(PDF: 90KB/1 page)		 3-MCC medical fact sheet
(PDF: 1087B/1 page)
Glutaric Acidemia, type 1 GA1 GA1 family fact sheet
(PDF: 50KB/1 page)		 GA1 medical fact sheet
(PDF: 107KB/1 page)
Isovaleric Acidemia IVA IVA family fact sheet
(PDF: 49KB/1 page)		 IVA medical fact sheet
(PDF: 107KB/1 page)
Methylmalonic Acidemia MMA MMA family fact sheet
(PDF: 86KB/1 pages)		 MMA medical fact sheet
(PDF: 107KB/1 pags)
 
Other Disorders      
Biotinidase Deficiency   Biotinidase Deficiency family fact sheet
(PDF: 126KB/1 page)		 Biotinidase Deficiency medical fact sheet
(PDF: 107KB/1 page)
Cystic Fibrosis CF CF family fact sheet
(PDF: 49KB/1 page)		 CF medical fact sheet
(PDF: 108KB/1 page)
Galactosemia   Galactosemia family fact sheet
(PDF: 83 KB/1 page)		 Galactosemia medical fact sheet
(PDF: 106 KB/1 page)
Severe Combined Immune Deficiency/Primary T-cell Lymphopenia SCID SCID family fact sheet
(PDF: 151 KB/1 page)		 SCID medical fact sheet
(PDF: 130KB/1 page)
  Laboratory Evaluation for SCID/T-cell Lymphopenia     Laboratory Evaluation for SCID/T-cell Lymphopenia
(PDF: 78 KB/1 page)
 
Additional Newborn Screening Fact Sheets      
Borderline Results   Borderline Results family fact sheet
(PDF: 83KB/1 page)		  
Lab Evaluation     Lab Evaluation medical fact sheet
(PDF: 132KB/1 page)
NICU    NICU medical fact sheet
(PDF: 106KB/1 page)
 
Hearing      
Hearing Loss   Hearing loss family fact sheet
(PDF: 87KB/1 page)		 Hearing Loss medical fact sheet
(PDF: 108KB/1 page)
Clinic Follow-up     Clinic Follow-up medical fact sheet
(PDF: 107KB/1 page)
Hospital Follow-up     Hospital Follow-UP medical fact sheet
(PDF: 107KB/1 page)
Hearing Technologies     Hearing Technologies medical fact sheet
(PDF: 107KB/1 page)
Updated Tuesday, 08-Jan-2013 14:50:27 CST