Advertisement

What inherited metabolic disorders do doctors screen for at birth?

In many cases, early diagnosis and treatment is the key to managing inherited metabolic disorders and minimizing their effects on the body. Especially for metabolic disorders in which the symptoms begin early, babies commonly receive routine screenings for these disorders right after they are born. Although tests vary in each state, newborns are typically tested for inherited metabolic disorders like phenylketonuria (PKU), maple syrup urine disease, tyrosinemia, and MCAD deficiency. Talk to your doctor to learn more.

Continue Learning about Metabolic Disorders

Do You Have Porphyria? Know the Symptoms
Do You Have Porphyria? Know the Symptoms
Porphyrias are a group of rare metabolic disorders that can cause a wide range of symptoms, ranging from severe blistering when exposed to sunlight, t...
Read More
Treatment for Porphyria
Treatment for Porphyria
Porphyrias are rare metabolic disorders that impact the body’s ability to produce heme. Heme is a natural compound needed to make red blood cells, tra...
Read More
What are the treatment options for amyloidosis?
Penn MedicinePenn Medicine
As amyloidosis is both rare and complex, seeking a proper diagnosis is important, and may require se...
More Answers
What are metabolic disorders?
Honor Society of Nursing (STTI)Honor Society of Nursing (STTI)
Metabolic disorders disrupt the body's ability to make or break down important substances found in f...
More Answers

Important: This content reflects information from various individuals and organizations and may offer alternative or opposing points of view. It should not be used for medical advice, diagnosis or treatment. As always, you should consult with your healthcare provider about your specific health needs.