Sometimes parents are very scared when they see some symptoms in a newborn baby. The baby is not eating well, not gaining weight, or suddenly behaves in an unusual way. The cause of such things may be 'Inherited Metabolic Disorders', which none of us have heard of. Don't be scared when you hear this name. Although this is a bit complicated topic, let's talk about it simply.
Simply put, what is this metabolism?
Think of our body as a big factory. The things we eat and drink ( carbohydrates , proteins , fats ) are the raw materials for this factory. The complex chemical process that uses these raw materials to create the energy the body needs, excretes unnecessary things as waste, and makes new things is what we call metabolism .
There are 'workers' in this factory to keep things running smoothly. We call these workers enzymes . Each enzyme has only one specific job. One breaks down sugar , another breaks down protein, and another removes toxins .
An 'inborn error of metabolism' means that one of the 'workers' (enzymes) in this factory is not working properly, or that worker is not born with it. This is due to a defect in the genetic 'blueprint' needed to make that enzyme.
This is like losing one worker on an assembly line. Either something essential goes unproduced, or unnecessary, toxic materials accumulate and problems arise.
What causes these diseases?
Many of these diseases are caused by genetic factors . Simply put, for a child to develop such a disease, they must receive two copies of the defective gene - one from their mother and one from their father.
In most cases, both parents are 'carriers' of this defective gene. This means that they have both the defective gene and the healthy gene in their bodies. Because of the healthy gene, they do not develop any symptoms.
However, if a child inherits the same defective gene from both the mother and father, the child's body will not produce the relevant enzyme. That's when the disease occurs. This is no one's fault, it's something that is inherited.
What types of diseases are there?
There are hundreds of these types of diseases. Each one has its own unique symptoms. Let's look at a few of the most commonly discussed types.
| Disease category and examples | Simply put, what happens? |
|---|---|
| Lysosomal Storage Disorders Eg: Hurler syndrome, Tay-Sachs disease, Gaucher disease | Due to the decrease in enzymes in the 'lysosomes', which break down waste products inside cells, toxins accumulate. This can cause things like nerve damage and bone deformities. |
| Galactosemia | The baby cannot digest the sugar 'galactose' found in milk. After drinking breast milk or formula, symptoms such as vomiting and jaundice may occur. |
| Maple Syrup Urine Disease | The accumulation of certain amino acids in the body damages the nervous system. The child's urine smells sweet, like maple syrup. |
| Phenylketonuria (PKU) | An amino acid called 'phenylalanine' accumulates in the blood. If not identified and treated early, it can affect intellectual development. |
| Metal Metabolism Disorders Ex: Wilson's disease, Hemochromatosis | Defects in proteins that control metals such as copper and iron that the body needs can lead to toxic levels in the body. |
What are the symptoms of this disease?
Symptoms vary greatly. It depends on which enzyme is lacking and which metabolic process is disrupted. Some diseases show symptoms within a few weeks of birth. Others may take years to develop.
Here are some common symptoms:
- Lethargy and drowsiness: The child is constantly tired and lifeless.
- Anorexia: No interest in eating or drinking milk.
- Stomach ache and vomiting: Frequent vomiting.
- Weight loss or lack of weight gain: Weight gain is not appropriate for age.
- Jaundice: The eyes and skin turn yellow.
- Developmental delay: Things like smiling, holding their head up, and walking happen later than other children.
- Seizures: Seizure-like conditions occur.
- Unusual odor from urine, sweat, or breath.
The most important thing is not to panic if you have one or two of these symptoms. But if more than one of these things persists, see your doctor without delay.
How is the disease diagnosed and treated?
Disease diagnosis
In some developed countries, every newborn baby is screened for a number of such diseases (Newborn Screening). Some hospitals in Sri Lanka also conduct screening for several such diseases.
If a doctor suspects this after symptoms appear, they will refer the patient for special blood tests and DNA tests. These are the only ways to accurately confirm the disease.
Treatment methods
Technology has not yet developed to completely cure the genetic defect that causes these diseases. However, there are many treatments that can help manage the disease and help the child live a normal life.
There are three main goals of treatment:
- Restricting foods that the body cannot digest: For example, a child with PKU is given a special diet that restricts protein-rich foods.
- Enzyme Replacement Therapy: For some diseases, the enzyme is administered as a vaccine to try to restore the body's processes.
- Removing toxins from the body: Using special medications or methods, harmful chemicals that have accumulated in the body are removed.
It is best for a child or adult with this condition to seek treatment at a hospital that specializes in this area. It is very important to follow the doctor's instructions exactly.
Take-Home Message
- 'Congenital metabolic diseases' are conditions that are caused by genetic factors. They are not the fault of the parents at all.
- Although these diseases are rare individually, they are not that rare when taken as a whole.
- If your child continues to have developmental delays, feeding problems, or other unusual symptoms, don't ignore them. Seek medical advice immediately.
- Many of these diseases can be managed well with early diagnosis, proper treatment, and dietary control.
- With advances in medical science, new and more effective treatments for these diseases (such as gene therapy) are likely to become available in the future.
💬 අදහස් (0)
තවමත් කිසිදු අදහසක් පළ කර නොමැත. ඔබේ අදහස පළමු වරට මෙහි එක් කරන්න.
ඔබේ අදහස එක් කරන්න