Diseases and Conditions Identified in Children

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

Amino Acid Disorders

  • Argininemia (ARG)
  • Argininosuccinate acidemia (ASA)
  • Biopterin defect in cofactor biosynthesis (BIOPT-BS)
  • Biopterin defect in cofactor regeneration (BIOPT-REG)
  • Citrullinemia (CIT)
  • Homocystinuria (HCY)
  • Hypermethioninemia (MET)
  • Hyperphenylalaninemia (H-PHE)
  • Maple syrup urine disease (MSUD)
  • Phenylketonuria (PKU)
  • Tyrosinemia, Type I (TYR-I)
  • Tyrosinemia, Type II (TYR-II)
  • Tyrosinemia, Type III (TYR-III)

Cardiovascular Conditions

Central Nervous System Conditions

Chromosomal Conditions

Ear Conditions

Endocrine Disorders

Eye Conditions

Fatty Acid Oxidation Disorders

  • 2,4 Dienoyl-CoA reductase (DE RED) deficiency
  • Carnitine-acylcarnitine translocase (CAC/ CAT/ CACT) deficiency
  • Carnitine palmitoyltransferase type I (CPT-IA) deficiency
  • Carnitine palmitoyltransferase type II (CPT-II) deficiency
  • Carnitine uptake defect (CUD)
  • Glutaric acidemia, type II (GA-2)
  • Long-chain L-3 hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency
  • Medium-chain acyl-CoA dehydrogenase (MCAD) deficiency
  • Medium-chain ketoacyl-CoA thiolase (MCKAT) deficiency
  • Medium/short-chain L-3-hydroxyacyl-CoA dehydroganase (M/SCHAD) deficiency
  • Short chain acyl-CoA dehydrogenase (SCAD) deficiency
  • Trifunctional protein (TFP) deficiency
  • Very long-chain acyl-CoA dehydrogenase (VLCAD) deficiency

Gastrointestinal Conditions

Genitourinary Conditions



Musculoskeletal Conditions

Orofacial Conditions

Organic Acid Disorders

  • 2-Methyl-3-hydroxybutyric acidemia (2M3HBA)
  • 2-Methylbutyrylglycinuria (2MBG)
  • 3-Methylcrotonyl-CoA carboxylase (3-MCC) Deficiency
  • 3-methylglutaconic aciduria, type I (3MGA)
  • 3-hydroxy-3-methylglutaric aciduria (HMG)
  • Beta-ketothiolase (BKT) deficiency
  • Glutaric Acidemia, type 1 (GA-1)
  • Holocarboxylase Synthetase Deficiency (also known as early-onset multiple carboxylase deficiency, MCD)
  • Isobutyrylglycinuria (IBG)
  • Isovaleric acidemia (IVA)
  • Malonic acidemia (MAL)
  • Methylmalonic acidemia cobalamin disorders (MMA Cbl A,B)
  • Methylmalonic acidemia (Methylmalonyl-CoA mutase deficiency)
  • Methylmalonic acidemia with homocystinuria (MMA Cbl C, D, F)
  • Propionic acidemia (PROP)