About
In order for your body to have energy, function, and grow, it must be able to break down the foods you eat. When you eat
protein, it is broken down into amino acids.
A person with an amino acid disorder is unable to properly break down and use proteins in their diet or they may have a
problem transporting these amino acids into the cell for use. These problems cause a buildup of harmful substances in
the body which can lead to serious health problems.
A baby with an amino acid disorder may not have any symptoms right away. Because these disorders can be so serious,
early diagnosis and treatment are critical.
Treatments may include special diets, medicines, and supplements. Some babies may also need additional treatments if
there are complications.
Utah currently screens for the following Amino Acid Disorders:
- Arginase Deficiency
- Argininosuccinic Acidemia
- Biopterin Defect
- Citrullinemia, Type I
- Citrullinemia, Type II
- GAMT Deficiency
- Homocystinuria
- Maple Syrup Urine Disease
- PKU
- Prolinemia
- Pyruvate Carboxylase Deficiency
- Tyrosinemia
Children diagnosed with Amino Acid Disorders receive care from the Metabolic Clinic at Primary Children’s Hospital.
