Metabolic disorders are caused by genetic birth defects that interrupt the body's metabolism and affect close to one in 4,000 people. There are thousands of different metabolic disorders that cause a specific enzyme to malfunction. Enzymes help to break down food and provide the body's energy.
Diagnosing a metabolic disorder can be difficult, as a wide variety of problems create similar symptoms; many patients end up enduring a battery of tests and seeing multiple experts before the root cause of their problems is identified.
The treatments for metabolic disorders vary, depending on what type of condition is involved and how severe the symptoms are. Once the problem has been identified, medication or therapy may help regulate the condition. Lifestyle changes, such as diet, may also help allow the individual to live a healthy, functional life.
Below is a list of the most common metabolic disorders seen in children waiting for forever families. We provide the following information for reference purposes only and cannot attest to the accuracy of the information. We highly recommend speaking with an experienced physician for further details on each condition.
Common Metabolic Disorders
(While the exact cause of Diabetes Type 1 is still unknown, it often develops due to an autoimmune disorder. We are including it under this section since research on diabetes is often reported in metabolic journals.)
Diabetes, also known as Type 1 diabetes, is a disease in which the pancreas (a small organ behind the stomach) does not produce a hormone called insulin. Insulin converts the food we eat into the energy our bodies need for daily life. Everyone needs insulin in order to live, so children with diabetes need to get insulin in other ways. Some of the symptoms of diabetes include being very thirsty, having to urinate a lot, weight loss, nausea, vomiting, and being really tired. Some children will have stomach pain. Without proper treatment, diabetes can lead to problems with a child’s heart, eyes, kidneys, legs, nerves, and skin. Untreated diabetes can also lead to coma and death.
Each child will have an individual treatment plan designed by his or her physician, but in general, kids with juvenile diabetes need to:
- Monitor their blood sugar levels several times a day
- Take insulin as prescribed
- Eat a healthy diet, watching the amount of carbohydrates in each meal
- Exercise regularly
There is currently no cure for diabetes; so children will need ongoing treatment.
A child who is diagnosed with diabetes can lead a normal life if their blood sugars are monitored and controlled by eating healthy foods and taking insulin injections.
- Failure to Thrive
Failure to thrive is a term used when children do not gain weight like they should. It can be caused by medical issues such as heart defects, infections, cleft lip, or lack of emotional and physical stimulation. Failure to thrive can occur when a baby’s formula is mixed with more water than the package instructions state. This weak formula leads to poor nutrition and low weight gain. The main cause of failure to thrive, however, is a simple lack of touch and love. Babies can become depressed and lose the desire to eat when they do not have consistent loving care. Children can also become disinterested in their surroundings, avoid eye contact, become irritable or not reach developmental milestones at the typical age. Children who are in institutions or hospitals are at an increased risk for failure to thrive. Many babies simply seem to “give up” their desire to grow. Failure to thrive should be identified early and appropriate treatment started so that normal growth and development can occur. If not addressed, it can be fatal.
Other common names:
Overactive thyroid, Thyrotoxicosis, Grave's disease
Hyperthyroidism is when the thyroid produces too much hormone, increasing the body's metabolism and other functions. In children and teens, it can affect growth and development. Untreated, the condition can lead to heart problems, including rhythm disturbances, and osteoporosis. Thyroid disorders are more common in girls and women than in boys and men. A child with hyperthyroidism may experience a rapid or irregular heartbeat, tremors in the hands, increased perspiration, sensitivity to heat, weight loss despite appetite, difficulty sleeping, frequent bowel movements, fatigue, irritability or an enlarged thyroid gland.
Other common names:
Hypothyroidism in infants and children occurs when not enough thyroid hormone is produced by the thyroid gland, leading to low levels of thyroid in the bloodstream. Infants and small children may have significant problems with growth and development if the condition is not diagnosed and treated promptly. Unexplained weight gain that cannot be connected to poor diet may be a symptom of hypothyroidism. Hypothyroidism can develop at any point in the lifespan. Infants can be born with hypothyroidism, or hypothyroidism can develop in children and adults of any age.
Other common names:
Phenylketonuria (PKU) is a rare condition in which a baby is born without the ability to properly break down an amino acid called phenylalanine. Children with PKU must follow a diet that limits phenylalanine, which is found mostly in foods that contain protein. Children with PKU often have fair skin and light eyes because phenylalanine cannot transform into melanin, causing a lack of pigment. Babies in the United States and many other countries are screened for phenylketonuria soon after birth; however this is not a standard test in many other countries around the world. A child in an institutionalized setting may not have a diagnosis of PKU and will be fed a regular diet. It is only after symptoms present themselves later that testing may be conducted and an appropriate diet applied. This delay in treatment could cause significant long-term effects such as seizures, developmental delays, hyperactivity, or small head size.