Advertisement

What are infant metabolic errors?

Inborn errors of metabolism, also known as congenital metabolic diseases or metabolic disorders, are usually due to defects of single genes that code for enzymes that break down and build chemicals in the body. In most of the disorders, problems arise due to the accumulation of chemicals that are toxic or interfere with normal function, or to a deficiency in essential chemicals.

The earliest screening for a congenital metabolic disease, phenylketonuria (PKU), was pioneered in the late 1960s, and involves using blood samples on filter paper obtained by pricking a newborn baby's heel on the second day of life. This PKU test is still in use today. Congenital hypothyroidism was the second disease widely tested in the 1970s. The development of tandem mass spectrometry screening in the early 1990s led to a large expansion of potentially detectable congenital metabolic diseases. Additional tests have been added to many screening programs over the last decade. Today newborn screening has been adopted by most countries around the world.

Continue Learning about Metabolic Disorders

4 Helpful Resources for Porphyria Patients
4 Helpful Resources for Porphyria Patients
Porphyria is the term used to describe a group of metabolic disorders that affect the nerves, skin and gastrointestinal tract—or in some cases, all th...
Read More
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
What should I do if I get dehydrated?
Univ. of Nev. School of Medicine, Family MedicineUniv. of Nev. School of Medicine, Family Medicine
If you are dehydrated, you should try to rehydrate by drinking water or other liquids such as sports...
More Answers
How does a doctor diagnose amyloidosis?
Penn MedicinePenn Medicine
Symptoms of amyloidosis are frequently vague and appear similar to those of other common diseases sp...
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.