Types Of Metabolic Disorders Your Child May Have
Created by Ambili S Kartha Updated on Sep 16, 2020
Does your child look inactive and weary? Does he or she show little interest in eating? Are you clueless about the significance of the screening tests for your baby soon after birth? Have you heard about metabolic disorder in child/ infants/ babies? You are on the right page. Continue reading.
What is Metabolism?
Before knowing the metabolic disorder lets try to understand what metabolism is. Metabolism implies the process by which your body creates energy from the food you eat. In order to maintain the living state of cells, tissues, and organs, a series of chemical reactions is required. All these chemical reactions together called metabolism. Metabolism is broadly divided into two categories - anabolism and catabolism. Anabolism implies the process by which the body synthesizes compounds needed by the cells and tissues. Whereas, catabolism is the process by which the body breaks down the food to release the energy needed for the body functions. Metabolism also includes the transformation of excess nitrogen in the body to waste and purging it through urine.
Thus, metabolism is an organized, but hectic chemical assembly line. Raw materials, half-finished products, and waste materials are continuously being utilized, created, transported, and excreted respectively. The "recruits" on the assembly line are enzymes and other proteins that facilitate chemical reactions.
What Is The Metabolic Disorder?
A metabolic disorder refers to the condition which hinders the chemical assembly mentioned above. If the body has too much of a particular substance, or too little of the ones or the substance may not work properly to stay healthy, it can bring about the metabolic disorder.
What Is Inherited Metabolic Disorder?
Inherited metabolic disorders are rare genetic (inherited) disorders in which the body cannot properly turn food into energy. This usually brings about when particular proteins or enzymes that help break down parts of food fails. More often, inherited metabolic disorders caused when a particular enzyme is either not produced by the body at all or is produced less or more than the required amount, or is produced in a form that doesn't work. The missing enzyme is like an absent worker on the assembly line and it can sabotage the whole process. Depending on that enzyme's role, its lack can pave the way to the accumulation of toxic waste products, or get in the way of production of an essential product.
What Cause Inherited Metabolic Disorder In Children?
The short answer to this question is a defective pair of genes. Genetic code to produce a particular enzyme or protein in one's body involves a pair of genes. If by any chance both the parents carry a particular defective gene and healthy gene instead of two healthy genes, the child is at the risk of inheriting both defective genes and thus contracts metabolic disorder. What you have to note here is, with one healthy gene, the parents will not show any symptoms or contracts metabolic disorders. They just act as carriers.
The root cause of most genetic metabolic disorders will be a gene mutation that happened many, many generations ago.
What is the relevance of newborn screening for metabolic disorder?
There are many different genetic metabolic disorders. When a baby has a metabolic disorder, the body can't break down the food correctly, which can cause the body to have too much or too little of certain substances. Though most of them are rare, it's very important that newborns be screened for them because even if the symptom isn't noticeable, if left untreated, many can cause severe illness and can turn fatal.
What Are The Types Of Metabolic Disorder In Children?
There are countless kinds of metabolic disorders. To make the matter worse, newer complications appears every now and then around the globe. The most common metabolic disorder list in children includes:
Fructose intolerance:Fructose intolerance is a disorder in which the child is deficient in a protein which is essential to break down fructose. Many baby foods and drinks have fructose in it. If the baby with this condition takes fructose, problematical chemical changes take place in the body. This brings down the blood sugar level and paves the way to the accumulation of dangerous substances in the liver
Galactosemia:Galactosemia is the inability to metabolize the simple sugar galactose. Galactose represents half of lactose, the sugar found in milk. Therefore, if an infant inherits galactosemia the substances from the galactose, which is not broken down starts to accumulate in the infant's system, thereby, causing damage to the liver, brain, kidneys, and eyes and can be fatal
Metal metabolism disorders:Levels of trace metals in the blood are regulated by particular proteins. If the child inherits metal metabolic disorders, due to the protein malfunction toxic metals gets accumulated in the child's body damaging the internal organs
Medium-chain acyl-CoA dehydrogenase (MCAD) deficiency:Medium-chain acyl-CoA dehydrogenase deficiency (MCAD) is a condition in which the body is unable to break down some particular fats into energy
Maple sugar urine disease (MSUD):In this condition, due to the lack of an enzyme (BCKD) the child's body cannot be able to metabolize three essential amino acids that are essential for the growth of the child. This paves the way to the accumulation of the amino acids in the bloodstream. The urine of the child will have a distinct maple syrup like the smell (hence the name). In extreme cases, mental retardation, coma, and death can be the consequences
Mitochondrial disorder:In this type of metabolic disorder, issues appear inside mitochondria, the powerhouses of cells, which can lead to muscle damage
Phenylketonuria (PKU):Phenylketonuria is a metabolic disorder in which a newborn's body cannot metabolize a part of the protein called phenylalanine due to the deficiency of a substance called phenylalanine hydroxylase (PAH). Phenylalanine is present in a good number food (especially high-protein foods like breast milk, cow's milk, and meat). If untreated, phenylalanine gets accumulated in the bloodstream and can bring about brain damage, mental retardation, etc.
Urea cycle defects:In this type of metabolic disorder, the child's body cannot be able to eliminate nitrogen. The nitrogen mounts up in the blood in the form of ammonia, a highly toxic substance. Ammonia then reaches the brain through the blood, where it can bring about permanent brain damage, coma, and even death
Glycogen storage disease (GSD):In this type of metabolic disorder, due to a particular enzyme deficiency, the conversion of glucose to glycogen, or the breakdown of glycogen back into glucose is affected. Mostly liver and muscle cells are affected
- This is an inherited disorder in which the child's body cannot process the vitamin biotin due to the lack or deficiency of a particular enzyme. If left undetected and untreated, this condition can bring about several life-threatening situations
What Are The Symptoms Of The Metabolic Disorder In Children?
The symptoms of the metabolic disorder may appear suddenly or in due course. Symptoms can be triggered by foods, some medications, conditions like dehydration, minor illnesses, or other factors. Symptoms emerge within a few weeks after birth to many years. Here are the main metabolic disorder symptoms in children:
- Poor appetite
- Weak muscle tone
- Abdominal pain
- Frequent vomiting
- Weight loss
- Feeling too sleepy or drowsiness
- Failure to gain weight or grow
- Developmental delay
- Problem with movements
- An abnormal odor of urine, breath, sweat, or saliva
- Hair loss
How To Treat The Metabolic Disorder In Children?
A condition due to genetic inheritance cannot be treated fully. The metabolic disorder treatment mostly includes symptom management and avoidance of substances that trigger issues and worsen the child's preexisting condition. How to care a child with a metabolic disorder is a challenge for many parents. Close monitoring and seeking immediate medical attention if needed is very important. Here are some common treatment measures:
- Don't give your child food or medicine, which cannot be metabolized (depending on the type of metabolic disorder) properly by his or her body. For example, babies with PKU are fine if they eat a phenylalanine-free formula
- If necessary plan a special diet for the child
- Enzyme replacement or replacement of the chemical that is missing or inactive will help to restore metabolism to as close to normal as possible
- The doctor will detoxify dangerous metabolic by-products from the blood by administering certain drugs
- Get on a weight management plan with the help of a doctor to reach and maintain a healthy weight
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