Most metabolic disorders in children can be due to inherited gene abnormalities (mutations or defects). However, a few can be acquired triggered by environmental and lifestyle factors such as childhood obesity. These conditions can alter normal physiological processes in the body due to defects in enzymes stimulating the process or the inability to use certain nutrients. Read on to learn more about the causes, types, symptoms, and management of metabolic disorders in children and ways to cope with most of these inborn errors.
What Is A Metabolic Disorder?
In the case of a metabolic disorder, the defective genes might not be able to produce these enzymes or would be producing them in fewer quantities. This could cause disturbances in metabolism and lead to:
A buildup of complex substances in the body, which could turn toxic. Inability to absorb essential nutrients into the body. Inability to synthesize building blocks of the body, such as carbohydrates, proteins, and fats to release energy.
It is important to identify the early symptoms of various metabolic disorders to ensure your child’s growth and development.
Causes Of Metabolic Disorders In Children
The main cause of most metabolic disorders in children is the inheritance of defective genes from the parents. These defective genes are due to mutations that might have occurred many years ago and are being passed down to generations. The human body produces enzymes based on the information stored in several pairs of genes. Children usually get these genes from both the parents, and the child might receive one normal gene and one defective gene. The normal gene would function for the defective gene, and so, no symptoms of the disorder could be found in that child. However, that child could become the carrier and might pass on the defective gene to the next generation. If the child inherits both the defective genes, then, their body would not be able to produce that particular enzyme, causing a metabolic disorder (1). Sometimes, metabolic disorders could also occur due to environmental and lifestyle factors such as obesity.
Types Of Metabolic Disorders Found In Children
There are over 50 metabolic disorders identified in children; these disorders are due to defects in genes that are inherited from the parents. Here are a few details about a few such disorders. Although most of the metabolic disorders are due to defective genes inherited by the child, childhood obesity could also be a triggering factor in some cases. Metabolic syndrome: This syndrome is a cluster of risk factors such as high blood pressure, insulin resistance, cardiovascular risks. Although the exact cause for this syndrome is not yet found, obese children were found to be at a higher risk (14). Lifestyle and diet modification can reduce the risk in children.
Symptoms Of Metabolic Disorders In Children
The symptoms could be specific to the type of metabolism being affected. However, there are a few common symptoms that might help you identify if your child is suffering from a metabolic disorder.
Poor feeding
Not able to meet the growth milestones Abnormal urine, sweat, or saliva Mental retardation Abnormal body features (bulging abdomen, depressed nasal bridge) Jaundice Kidney stones/ liver toxicity Seizures Failure to gain weight and height Weakness lethargy Confusion Abdominal pain and vomiting after consuming certain foods Eye problems – loss of vision , retinitis pigmentosa , optic atrophy , cherry red spot Extrapyramidal disorders Pyramidal and cerebellar syndrome with or without peripheral neuropathy (white matter disease) Joint and muscular disorders Myopathy
Diagnosis Of Metabolic Disorders
Most of these metabolic disorders are diagnosed during newborn screening or before birth. Many states in the US have made it mandatory to screen babies for some of these disorders (15). If any of the disorders are not diagnosed during the newborn screening, then they are not identified until the symptoms appear. Usually, your child’s doctor would perform a physical examination and run a blood and urine tests, and DNA test to determine the exact metabolic disorder.
Treatment For Metabolic Disorders In Children
As these disorders are due to defects in the genes, they cannot be completely cured with the treatment options available now. However, by taking certain measures, these disorders could be managed to a certain extent. It should be remembered that your doctor is the best person to identify and prescribe the diet and precautions that would help your child to have a healthy childhood. Your doctor might prescribe the following:
Eliminating the food groups which the body is not able to process. Give artificial enzymes through medication in place of the inactive/ absent enzyme, which might promote proper metabolism. Give medications to remove the toxic products that get accumulated in the body due to failed metabolism.
Some of these disorders can cause serious complications and permanent organ damage in children, so early identification and intervention of metabolic disorders might help effective management.
