Metabolism is a complex collection of chemical reactions that take place in the body's cells to convert the fuel in the food we eat into the energy we need to live. All of the body’s metabolic processes are controlled by very specific proteins and hormones and facilitated by chemicals called enzymes. Thousands of metabolic reactions happen at the same time, like a well-coordinated chain reaction, to keep our bodies healthy.
Most disorders of metabolism involve either abnormal levels of enzymes or of hormones or problems with the functioning of those enzymes or hormones. Any of these things can lead to abnormal chemical reactions and a buildup of toxic substances in the body, or a deficiency of substances needed for normal body function.
Some examples of metabolic disorders and conditions include G6PD deficiency, galactosemia, hyperthyroidism, hypothyroidism, phenylketonuria (PKU), type 1 diabetes, and type 2 diabetes.
At Nemours the area of metabolism is combined with other specialties, such as genetics, endocrinology, and nutrition. Together our physicians and other experts work to evaluate, diagnose, and treat specific types of metabolic disease, including those that are inherited (called inborn errors of metabolism) and those that are acquired later in childhood.
Certain metabolic diseases can be detected through routine newborn screening soon after birth (specimens are collected in the hospital where your baby is born and sent to a state laboratory for analysis). Your child’s primary care doctor will receive the test results, and if he or she suspects an abnormal result, your baby may be referred to a genetics, metabolism, blood disorders, or endocrinology specialist. However, metabolic conditions that appear later can be more difficult to diagnose, because their symptoms can often mimic those of other conditions.
The Nemours staff involved in the care of patients with metabolic disorders can provide a thorough evaluation for your child, which typically includes a detailed physical exam; a medical, developmental, and family history; state-of-the-art laboratory testing (such as chromosome analysis or metabolic panels); and imaging studies, such as CAT scans or MRIs. Some children with less common conditions may be referred to other centers that focus on these specific disorders.
Treatment for metabolic disorders is highly individualized, but usually includes medication and dietary changes. Nemours registered dietitians play a large role in this treatment plan. They can:
- recommend a special diet that regulates the substances that trigger the symptoms of the metabolic disorder, or a feeding plan that reduces some of its symptoms (for example, a reduction of phenylalanine in the diets of children with PKU).
- under a doctor’s supervision, recommend increasing the amounts of certain vitamins to counteract the effects of the dysfunctional enzymes
- assist with the components of tube feedings if your child has difficulty swallowing or is otherwise not maintaining adequate nutrition
- offer behavioral assistance to help your child comply with any necessary dietary restrictions at home
The Nemours metabolic disease staff can also provide counseling and education about the disorder in general, including its prognosis and risk of recurrence in your family. We also provide referrals to other subspecialty areas as needed (for example, ophthalmology, neurology, or orthopedics).