Amino Acid Disorders

Babies born with an Amino Acid Disorder cannot process certain amino acids, so toxic substances build up in the body soon after birth and cause damage to the brain and other organs. A special diet and supplements can help prevent these problems. An example of an amino acid disorder is Phenylketonuria (PKU).

These disorders occur in about 1 in every 10,000 births in Washington State.

The Newborn Screening Program encourages all patients to discuss any concerns they have regarding newborn screening results with their health care provider or with follow-up staff at the Newborn Screening Program.

Argininosuccinic Acidemia (ASA)

Argininosuccinic Acidemia (ASA) General Overview (PDF)

* Genetics Home Reference - Comprehensive ASA Information

* Genetics Home Reference - Family Support Sites - ASA Support Sites for Families

* STAR-G - General ASA Information

Citrullinemia (CIT)

Citrullinemia (CIT) General Overview (PDF)

* Genetics Home Reference - Comprehensive CIT Information

* Genetics Home Reference - Family Support Sites - CIT Support Sites for Families

* STAR-G - General CIT Information

Homocystinuria (HCY)

Homocystinuria (HCY) General Overview (PDF)

* National Organization for Rare Disorders - General Information on HCY

* Genetics Home Reference - Comprehensive HCY Information

* Genetics Home Reference - Family Support Sites - HCY Support Sites for Families

Maple Syrup Urine Disease (MSUD)

Maple Syrup Urine Disease (MSUD) General Overview (PDF)

* National Organization for Rare Disorders - General Information on MSUD

* MSUD Family Support Group - Family Support Organization

* Genetics Home Reference - Comprehensive MSUD Information

* Genetics Home Reference - Family Support Sites - MSUD Support Sites for Families

Tyrosinemia Type I (TYR-I)

Tyrosinemia Type 1 (TYR-1) General Overview (PDF)

* Genetics Home Reference - Comprehensive TYR-I Information

* Genetics Home Reference - Family Support Sites - TYR-I Support Sites for Families

* STAR-G - General TYR-I Information

Phenylketonuria (PKU)

Phenylketonuria (PKU) General Overview (PDF)

Mild PKU General Overview (PDF)

* Children's PKU Network - PKU Support Organization

* March of Dimes - March of Dimes

* National PKU News- News and Information about PKU

* University of Washington PKU Clinic - Resources for Families and Professionals

* A Babysitter's Guide to PKU (PDF)

* Low Protein Recipes (HTML)

* Finger Foods Are Fun (PDF)

* Games That Teach: Learning by Doing for Preschoolders with PKU (PDF)

* Making the Change from High Phe to Low Phe (for adults with PKU) (PDF)

* New Parents' Guide to PKU (PDF)

* PKU & Pregnancy: Part 1: General Information (for adults with PKU) (PDF)

* PKU & Pregnancy: Part 2: General Information (for adults with PKU) (PDF)

* Chef Lophe's Phenomonal Cookbook (HTML)

* PKU for Children: Learning to Measure (PDF)

* The Essentials of PKU: An Informational Site for Young Adults with PKU (HTML)

* What is Phenylketonuria? (HTML)

Links to external resources and links are provided as a public service and do not imply endorsement by the Washington State Department of Health.

Back to Top