Diseases and Conditions Identified in Children
The list of health conditions found on this page is not an exhaustive list of health conditions that may impact the lives of children in Minnesota. The health conditions included here are either identified birth defects tracked by CYSHN activities or are conditions diagnosed as part of the Minnesota Newborn Screening Program. You will find basic information about these various health conditions including a general description of the condition and how to find more information and resources. If the health condition you are looking for is not included here, it may be found on the A-Z Listing of Diseases & Conditions
| QUICK LINKS: alphabetical list of fact sheets available |
Amino Acid Disorders
- Argininemia (ARG)
- Argininosuccinate acidemia (ASA)
- Benign hyperphenylalaninemia (H-PHE)
- Biopterin defect in cofactor biosynthesis (BIOPT-BS)
- Biopterin defect in cofactor regeneration (BIOPT-REG)
- Citrullinemia (CIT)
- Homocystinuria
- Hypermethioninemia (MET)
- Maple syrup urine disease (MSUD)
- Phenylkatonuria (PKU)
- Tyrosinemia, Type I (TYR-I)
- Tyrosinemia, Type II (TYR-II)
- Tyrosinemia, Type III (TYR-III)
Cardiovascular Conditions
- Atrial septal defect
- Coarctation of the aorta
- Common truncus
- Ebstein's anomaly
- Endocardial cushion defect
- Hypoplastic left heart syndrome
- Patent ductus arteriosus
- Pulmonary valve atresia and stenosis
- Transposition of the great arteries
- Tricuspid valve atresia and stenosis
- Ventricular septal defect
Central Nervous System Conditions
Chromosomal Conditions
Ear Conditions
Endocrine Disorders
Eye Conditions
Fatty Acid Oxidation Disorders
- 2,4 Dienoyl-CoA reductase deficiency (DE RED)
- Carnitine acylcarnitine translocase deficiency (CAC / CAT / CACT)
- Carnitine palmitoyltransferase I deficiency (CPT-IA)
- Carnitine palmitoyltransferase type II deficiency (CPT-II)
- Carnitine uptake defect (CUD)
- Glutaric acidemia, type II (GA-2)
- Long-chain L-3 hydroxyacyl-CoA dehydrogenase deficiency (LCHAD)
- Medium-chain acyl-CoA dehydrogenase deficiency (MCAD)
- Medium-chain ketoacyl-CoA thiolase deficiency (MCKAT)
- Medium/short-chain acyl-CoA dehydroganase deficiency (M/SCHAD)
- Short-chain acyl-CoA dehydrogenase deficiency (SCAD)
- Trifunctional protein deficiency (TFP)
- Very long-chain acyl-CoA dehydrogenase deficiency (VLCAD)
Gastrointestinal Conditions
- Biliary atresia
- Esophageal atresia
- Hirschsprung's disease
- Pyloric stenosis
- Rectal and large intestinal atresia / stenosis
Genitourinary Conditions
Hearing
Hemoglobinopathies
Musculoskeletal Conditions
- Congenital hip dislocation
- Diaphragmatic hernia
- Gastroschisis
- Omphalocele
- Reduction deformity: lower limbs
- Reduction deformity: upper limbs
Orofacial Conditions
Organic Acid Disorders
- 2-Methyl-3-hydroxybutyric acidemia (2M3HBA)
- 3-Methylcrotonyl-CoA carboxylase Deficiency (3-MCC)
- 3-methylglutaconic aciduria (3MGA)
- 3-hydroxy-3-methylglutaric aciduria (HMG)
- Beta-ketothiolase deficiency (BKT)
- Glutaric Acidemia, type 1 (GA-1)
- Isobutyrylglycinuria (IBG)
- Isovaleric acidemia (IVA)
- Malonic acidemia (MAL)
- Methylmalonic acidemia cobalamin disorders (MMA Cbl A,B)
- Methylmalonic acidemia methyl-CoA mutase deficiency (MUT)
- Methylmalonic acidemia with homocystinuria (MMA Cbl C, D, F)
- Multiple carboxylase deficiency (MCD)
- Propionic acidemia (PROP)
- Short/branched chain acy-CoA dehydrogenase deficiency (SBCAD)
Others
- 22q11.2 Deletion Syndrome
- Autism and autism spectrum disorders
- Classic galactosemia (GALT)
- Cystic fibrosis (CF)
- Duarte galactosemia (DG or D/G galactosemia)
- Fetal alcohol syndrome
- Galactoepimerase deficiency (GALE)
- Galactokinase deficiency (GALK)
- Partial biotinidase deficiency (Partial BIOT)
- Profound biotinidase deficiency (BIOT)
- Severe combined immunodeficiency (SCID)
Contact Us
If you have questions or comments about this page, please contact Children and Youth with Special Health Needs (CYSHN) at health.cyshn@state.mn.us.
