Amino acid (AA) disorders can affect the body’s metabolism. They affect the way the body processes the protein found in foods that are used for growth, energy, and repair. This can include foods such as formula, breast milk, and meats.
Without treatment, AA disorders can cause developmental delays, organ damage, breathing problems, seizures, and death. A special diet and medicine can help prevent these problems.
Core Conditions
- Argininosuccinic Aciduria (ASA)
- Citrullinemia, Type I (CIT I)
- Classic Phenylketonuria (PKU)
- Homocystinuria (HCY)
- Maple Syrup Urine Disease (MSUD)
- Tyrosinemia, Type I (TYR I)
- Ornithine Transcarbamylase Deficiency (OTC)**
Secondary Conditions
- Argininemia (ARG)
- Benign Hyperphenylalaninemia (PHE)
- Biopterin Defect in Cofactor Biosynthesis (BIOPT (BS))
- Biopterin Defect in Cofactor Regeneration (BIOPT (REG))
- Citrullinemia, Type II (CIT II)
- Carbamoyl Phosphate Synthetase I Deficiency (CPS)*
- Hypermethioninemia (MET)
- Homocystinuria due to MTHFR Deficiency (HCY due to MTHFR Deficiency)
- Pyruvate Carboxylase Deficiency (PC)*
- Tyrosinemia, Type II (TYR II)
- Tyrosinemia, Type III(TYR III)
Please note: The disorders with stars(*) are screened for in Connecticut, but are not on the Recommended Uniform Screening Panel. These conditions are legislatively mandated or have a validated screening method.