From mere lack of appetite to major developmental delays, metabolic disorders can have many repercussions in the health of your child. If you believe your child is suffering from one, then here is all you need to know and more.
What are metabolic disorders?
Metabolism is the way the body breaks down food into simpler substances. Sometimes owing to genetic conditions or defects, the body is unable to break down a substance that should be broken down, allowing a toxic residue to build up. In other cases, the body is unable to produce essential substance. This condition is broadly known as a metabolic disorder.
What are the common metabolic disorders?
There are over 1500 metabolic disorders known today, related to 20,000 genes. Every day a new gene is discovered that helps us in identifying metabolic disorders. Some of the common disorders are Galactosemia, Tyrosinemia, Methyl Malonic Acidaemia, Maple Syrup Urine Disease, Biotinidase deficiency, Hypothyroidism etc.
How can we detect them?
There are more than 200 specialised tests available in blood, urine, CSF, Bile etc. There are high specialised labs which can do biochemical analysis and identify any disorder and then confirm genetically, which is very important. Of course, the best way to detect them is right after the baby is born. This is done through Newborn Screening Tests.
Are treatments available?
For some of the disorders, treatments are now available, and this list is improving day by day. As of today, there are about 84 treatable disorders known. The treatment includes dietary changes, vitamins, some specific medicines, various enzyme replacement therapies, organ transplants and supporting care.
How can we prevent them?
Since they are genetic in origin, no one can prevent these from occurring. However, we can take care to prevent progression and damage. Early detection is key, and hence for some 55 disorders, newborn screening test – also called Expanded Newborn Screening Test – is used. More disorders are being included in the list every now and then. These are not routinely done in some parts of our country but in the western developed world, such programmes are national health programmes and universally available.
At Kangaroo Care too, we offer newborn screening tests to help your baby manage any metabolic disorder and grow into a healthy adult.