Our bodies are fueled by the food we eat, and metabolism plays a vital role in the process. Its main task is to convert any nutritious substances that an individual consumes into energy. The body then uses this energy to run on it but it can also rely on muscles, liver, and body fat to store it for later use. When the chemical reactions in the body interfere with usual metabolic processes due to abnormalities, it’s our bodies’ signal that there might be a metabolic disorder.
When it comes to children, it is possible for babies as little as a few days old to get diagnosed with a metabolic disorder. In some cases, it can take years for symptoms to appear, although this is rare. What many parents are asking themselves is: Does my child have a metabolic disorder? And if so, which steps can I take to ensure they get suitable treatment? In this article, we’ll be looking at everything from symptoms and causes to diagnosis and treatment options regarding pediatric metabolic disorders.
Metabolic disorder symptoms
The symptoms a child suffering from a metabolic disorder will experience largely depend on the type of disorder in question. Although babies present metabolic disorder symptoms in days following the birth, it is possible for symptoms to start to appear after several days or even months. Sometimes, it takes an illness for the symptoms to begin showing up.
Generally speaking, it’s best that you remain aware of the following symptoms and seek medical help should you notice them:
- Infant’s inability to thrive
- jaundice
- fast breathing
- ichthyosis
- developmental delay
- poor appetite and weight gain
- seizures
- vomiting
- excessive sleepiness
- extreme tiredness
- specific urine/breath odor
- alopecia
Metabolic disorder causes
For our bodies to thrive and function at an optimal level, it is important that any nutritious substances we consume are processed properly. When a child lacks digestive enzymes that allows them to achieve that, this is when a metabolic disorder typically occurs. This inability to produce these necessary enzymes often signals a gene error, and metabolic disorders often run in the family. If an infant is diagnosed with a metabolic disorder, it means that the disorder has been passed down and that the condition is genetic.
However, metabolic disorders can also occur in older children as well. When this happens, it’s typically obesity that’s the main culprit behind it. Because this condition can lead to the development of type 2 diabetes as well as heart disease, treatment is vital.
Metabolic disorder diagnosis
When a newborn is diagnosed with a metabolic disorder, it’s typically done through a screening program. In the U.S., this screening is mandatory for all babies born there, and is performed unless refused by the parents. It consists of blood spot screening, hearing screening, and pulse oximetry.
Diagnosing metabolic disorder in older children is different. According to experts from Pediatric Endocrine and Metabolic Center of Florida, the doctors will go over the medical history of a child before the examination begins. They’ll also discuss symptoms that the child has, along with their drinking and eating habits, and they’ll check for obesity and high blood pressure. As a parent, you’ll also need to talk to the doctor about your child’s development, addressing everything from their language comprehension to motor skills to their overall behavior. This will then be followed by a physical examination and laboratory testing.
Metabolic disorder treatment options
Depending on if and what the child is diagnosed with, there are different metabolic disorder options available. Although these are lifelong conditions, the good news is that they are treatable and manageable. When it comes to treating metabolic disorder in infants, this will most often include dietary restrictions and focusing on a diet that is low in protein while drinking a special formula. The doctor may also recommend supplementation and medications.
As for older children, their metabolic disorder treatment options will also depend on the type of metabolic issue they’re dealing with. In cases where the child suffers from hypothyroidism, diabetes mellitus type I, or some other endocrinology-related condition, the doctor will probably recommend medical treatment and management.
Wrapping up
A child getting diagnosed with a metabolic disorder is a frightening scenario for virtually any parent, but at the same time, it’s a reality for many. What’s important is that parents recognize any suspicious symptoms early on, make a diagnosis, and then take steps to ensure that their child has a normal, healthy life. The sooner the child begins receiving the necessary treatment, the lower the risk of serious health problems will be.
