Amino Acid Disorders - Diseases and Conditions Identified in Children

Amino Acid Disorders

Amino acid disorders are a group of rare, inherited metabolic conditions. Amino acid disorders result in the build-up of certain amino acids (compounds that make up proteins). In some conditions, other substances can also build-up in the body. Each specific amino acid condition has a different cause, and health effects, signs or symptoms, and treatments vary. Support is available for families of children and youth with amino acid conditions.

Condition-specific information and resources are available in English and Spanish on the Baby's First Test website:

Argininemia (ARG)

Argininosuccinic 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)

Family Stories: newborn screening family stories on the Minnesota Department of Health website, including stories about amino acid condition(s).