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Amino Acid Disorders

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)

**The following are additional disorders that are screened for in Connecticut that are not on the RUSP. These conditions are a validated condition screening or legislatively mandated.