What is the inborn error of metabolism?
Inborn errors of metabolism are rare genetic (inherited) disorders in which the body cannot properly turn food into energy. The disorders are usually caused by defects in specific proteins (enzymes) that help break down (metabolize) parts of food.
When are inborn errors of metabolism?
Inborn errors of metabolism (IEM), although individually rare, occur in 1 out of every 1,500 births. The first opportunity to detect IEM occurs during preconception counseling, when pregnant women and couples considering future pregnancies can undergo carrier screening.
What are the signs and symptoms of inborn errors of metabolism?
Symptoms
- Unintended weight loss, or a failure to gain weight and grow in babies and children.
- Tiredness and lack of energy.
- Hypoglycemia or low blood sugar.
- Poor feeding habits.
- Stomach problems or vomiting.
- High levels of acid or ammonia in the blood.
- Abnormal liver function.
- Developmental delays in babies and children.
Is Alkaptonuria an inborn error?
Alkaptonuria is a rare condition in which a person’s urine turns a dark brownish-black color when exposed to air. Alkaptonuria is part of a group of conditions known as an inborn error of metabolism.
How common are inborn errors of metabolism?
Although any given inborn error of metabolism is very rare, taken as a group, inborn errors of metabolism occur in 1 in 2500 births. They can present at any age, and therefore, awareness of these diseases, their presentations, and their evaluation is critical for interprofessional team members.
How can inborn errors of metabolism be treated?
The management of inborn errors of metabolism has traditionally consisted in diet therapy and supportive therapy, but recently other treatment options have become available, including enzyme and coenzyme replacement, removal of harmful substances, cell and organ transplantation, and gene therapy.