Children and Youth with Special Health Needs (CYSHN)

Newborn Screening Conditions / Disorders


Minnesota screens newborns for more than 50 medical conditions and disorders that will affect an infant's health if left undetected. Through Newborn Screening, disorders affecting the metabolic, endocrine and blood systems, as well as an infant's ability to breathe, hear, or to digest food properly are identified. Physicians work closely with parents to carefully manage these conditions and disorders once they are detected.

Look below to find information for several of the disorders identified through newborn screening.

Conditions / Disorders Abbreviation

 
Hearing Level / Hearing Loss -
Biotinidase Deficiency BIO
Cystic Fibrosis CF
Duarte Galactosemia  
Galactosemia GALT
Sickle Cell Disease SCD
Alpha Thalassemia a thal

Endocrine Disorders
Congenital Adrenal Hyperplasia CAH
Congenital Hypothyroidism CH

Amino Acid Disorders
Argininemia / Arginase Deficiency ARG
Argininosuccinate Acidemia ASA
Citrullinemia - Type I (Argininosuccinate Synthetase Deficiency) CIT-1 / ASAS
Homocystinuria / Cystathionione beta-synthase Deficiency HCY / CBS
Maple Syrup Urine Disease (Branched-chain Ketoaciduria) MSUD
Phenylketonuria PKU
Tyrosinemia - Type I TYR-I

Fatty Acid Oxidation Disorders
Carnitine Uptake/Transport Deficiency CUD / CTD
Carnitine Acylcarnitine Translocase Deficiency CAC / CAT / CACT
Carnitine Palmitoyl Transferase Deficiency - Type 1 CPT-1
Carnitine Palmitoyl Transferase Deficiency - Type 2 CPT-2
Glutaric Acidemia - Type 2 GA-2
Long-chain Hydroxyacyl-CoA Dehydrogenase Deficiency LCHAD
Medium-chain acyl-CoA Dehydrogenase Deficiency MCAD
Short-chain acyl-CoA Dehydrogenase Deficiency SCAD
Short Chain 3-hydroxyacyl-CoA Dehydrogenase Deficiency SCHADD
Trifunctional Protein Deficiency TFP
Very long-chain acyl-CoA Dehydrogenase Deficiency VLCAD

Organic Acid Disorders
2-Methylbutyryl-CoA Dehydrogenase Deficiency 2MBCD / SBCAD
3-Methylcrotonyl-CoA Carboxylase Deficiency 3-MCC
3-hydroxy-3-methylglutaryl-CoA Iyase Deficiency HMGCoA
Beta-Ketothiolase Deficiency BKD
Glutaric Acidemia - Type 1 GA-1
Glutaric Acidemia - Type 2 GA-2
Isobutyryl-CoA Dehydrogenase Deficiency IBD
Isovaleric Acidemia IVA
Methylmalonic Acidemia with Homocystinuria MMA+HCU
Propionic Acidemia PA
Multiple Carboxylase Deficiency MCD / HCSD
Methylmalonic Acidemia MMA


Each newborn in Minnesota is screened for over 50 disorders. For a complete list of the disorders click on the following link:

      2012 Newborn Screening Disorder Panel (PDF: 23KB/1 page)


Health Condition Fact Sheets Children and Youth with Special Health Needs has also developed a series of fact sheets for some of the most common birth defects. The fact sheets provide information such as a general description of the condition, prevalence, common associated conditions, short and long-term treatment and outcomes, common complications and implications for children's development.

Updated Tuesday, 04-Sep-2012 13:50:04 CDT