Argininemia

What is a positive newborn screen? 

Newborn screening is done on tiny samples of blood taken from your baby’s heel 24 to 36 hours after birth. The blood is tested for rare, hidden disorders that may affect your baby’s health and development. The newborn screen suggests your baby might have a disorder called argininemia.

A positive newborn screen does not mean your baby has argininemia, but it does mean your baby needs more testing to know for sure. 

You will be notified by your primary care provider or the newborn screening program to arrange for additional testing.

What is argininemia? 

Argininemia affects an enzyme needed to break down certain proteins and remove waste ammonia from the body. 

A person with argininemia doesn’t have enough enzyme to break down protein and remove ammonia from the body. Ammonia is very harmful to the body and can cause health problems if not removed.

Argininemia is a genetic disorder that is passed on (inherited) from parents to a child. The mother and father of an affected child carry a gene change that can cause argininemia. Parents usually do not have signs or symptoms, or even know they carry the gene change. 

What problems can argininemia cause? 

Argininemia is different for each child. Some children have a mild form of argininemia with few health problems, while other children may have a severe form or argininemia with serious complications. 

If argininemia is not treated, a child might develop:

• Feeding problems. 
• Vomiting. 
• Irritability. 
• Muscle stiffness (spasticity). 
• Poor growth. 
• Learning problems. 
• Seizures. 

It is very important to follow the doctor's instructions for testing and treatment. 

What is the treatment for argininemia?

Argininemia can be treated. Treatment is life-long and can include:  

• Low protein diet - a dietitian will help you set up the best diet for your child. 
• Special formula low in protein. 
• Medications to help prevent high ammonia. 

Children with argininemia should see their regular doctor, a doctor who specializes in argininemia and a dietitian. 

Prompt and careful treatment helps children with argininemia live the healthiest lives possible. 

Michigan Resources and Support 

Michigan Newborn Screening Nurse Consultant
Phone: 1-866-673-9939
Email: NewbornScreening@Michigan.gov

Michigan Metabolic Coordinating Center
C.S. Mott Children's Hospital, Michigan Medicine
Phone: 1-734-764-0579

Children's Special Health Care Services 
Phone: 1-800-359-3722

Download a printable version of the ARG fact sheet.