Diseases and Conditions Identified in Children

Diseases and Conditions Identified in Children

Most of the health conditions included on this page are either identified birth defects tracked by CYSHN activities or are conditions that may be included in Newborn and Child Follow-up Unit activities. You will find basic information about many of these health conditions, including a general description 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. For more information about prevalence of birth defects in Minnesota, visit the Minnesota Public Health Data Access Website.


Amino Acid Disorders

  • Argininemia (ARG)
  • Argininosuccinate aciduria (ASA)
  • Biopterin defect in cofactor biosynthesis (BIOPT-BS)
  • Biopterin defect in cofactor regeneration (BIOPT-REG)
  • Citrullinemia type I
  • Citrullinemia type II (CIT II)
  • 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 deficiency (DE RED)
  • Carnitine acylcarnitine translocase deficiency (CACT)
  • Carnitine palmitoyltransferase type 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 L-3-hydroxyacyl-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

Genitourinary Conditions

Hearing

Hemoglobinopathies

Lysosomal Disorders

  • Mucopolysaccharidosis type I (MPS I)
  • Pompe disease

Musculoskeletal Conditions

Orofacial Conditions

Organic Acid Disorders

  • 2-methyl-3-hydroxybutyric acidemia (2M3HBA)
  • 2-methylbutyrylglycinuria (2MBG)
  • 3-hydroxy-3-methylglutaric aciduria (HMG)
  • 3-methylcrotonyl-CoA carboxylase Deficiency (3-MCC)
  • 3-methylglutaconic aciduria (3MGA) - 3-methylglutaconyl-CoA hydratase deficiency
  • Beta-ketothiolase deficiency (BKT)
  • Glutaric acidemia type 1 (GA-1)
  • Holocarboxylase synthetase deficiency (also known as early-onset multiple carboxylase deficiency)
  • Isobutyrylglycinuria (IBG)
  • Isovaleric acidemia (IVA)
  • Malonic acidemia (MAL)
  • Methylmalonic acidemia (Cobalamin disorders)
  • Methylmalonic acidemia (Methylmalonyl-CoA mutase deficiency)
  • Methylmalonic acidemia with homocystinuria
  • Propionic acidemia (PROP)

Others