Advertisement

What inherited metabolic disorders affect proteins?

Proteins contain substances known as amino acids, which the body needs for many important functions. Enzymes in the body help to break down these compounds in the food we eat so that the body can use them in the ways that it needs. In some cases, a genetic defect causes these enzymes to be missing or to function improperly. When this happens, substances that should be broken down build up, or the body fails to make a substance that it needs to, and a metabolic disorder develops. Inherited metabolic disorders that affect proteins include phenylketonuria (PKU), maple syrup urine disease, homocystinuria, and tyrosinemia. Doctors routinely screen for many amino acid metabolic disorders at birth.

Continue Learning about Metabolic Disorders

Porphyria: Tips for Working With a Healthcare Provider
Porphyria: Tips for Working With a Healthcare Provider
Porphyrias are metabolic disorders related to the buildup of natural chemical compounds called porphyrins, which the body makes during the production ...
Read More
Types of Porphyria: Acute, Cutaneous and More
Types of Porphyria: Acute, Cutaneous and More
Porphyria is the name given to a group of metabolic disorders related to abnormal enzyme activity during the production of heme, an important componen...
Read More
What are the symptoms of severe dehydration?
The Medical Center of AuroraThe Medical Center of Aurora
It’s vital to catch dehydration early because it doesn’t take long for it to turn into more severe d...
More Answers
How can I prevent dehydration?
Dr. Ricardo E. Estape, MDDr. Ricardo E. Estape, MD
You can avoid dehydration by following a few basic guidelines. Don’t wait until you are thirsty t...
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.