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There are several disorders that are inherited by a child from his parents. It is not necessary that the parents also suffer from the same disease; it might be possible that grandparents or great grandparents suffered from the same disease. Doctors prefer to test the child for hereditary or metabolic disorder so that they recommend appropriate treatment for the child. Metabolism is a chemical process that helps the body assimilate the digested food. Inherited metabolic disorders or hereditary metabolic disorders disrupt the body function as it stops converting food into energy. Further, the body is unable to remove waste and toxic substances. 

How does Metabolism work?
It is a chemical process that helps in breaking down food into energy. It breaks down the carbohydrates, proteins and fats in order to make energy.  It transforms excess of nitrogen into waste products which are excreted in urine. 

In Inherited metabolic disorders an enzyme or group of enzymes are missing which disrupts the entire metabolic process.  Due to the absence or malfunctioning of the enzyme, its functions become null and void which leads to either a toxic build up or missing product. 


There are a lot of symptoms a person shows when he or she suffers from hereditary metabolic disease. Some symptoms may vary from person to person, some of them include: 

  • Improper development
  • Poor appetite 
  • Weight loss
  • Sunken eyes
  • Abdominal pain
  • Indigestion
  • Malnutrition 
  • Jaundice
  • Fatigue
  • Breathlessness

Types of hereditary metabolic disorders: 
There are a variety of hereditary disorders that cause disruption in the metabolic process of the body. Some of the hereditary disorders include:

Fabry Disease: In this the child experiences extreme pain and has issues in the kidney. The child also suffers from heart diseases which get severe in adulthood.

  •  Niemann-Pick disease: In this the infant develops a large liver and suffers from difficulty in eating and nerve damage. 
  • Lysosomal storage disorder: Lysosomes are present in the cells, their main function is to break down the waste material and eliminate toxic elements out of the body. Due to some deficiency in lysosomes the toxic elements build up which causes a lot of problems.
  • Galactosemia: It is a condition where malfunction in breakdown of sugar leads to jaundice, vomiting and liver enlargement.
  • Phenylketonuria(PKU): It is caused by deficiency of an enzyme PAH that results in high levels of Phenylalanine in the blood which causes a lot of problems.


  • Taking supplements in order to fulfill the requirement of the body.
  • Taking enzymes and boosters to support metabolic activity in the body.
  • Special diet to fulfill body needs.
  •  Eliminating foods that cannot be processed by the body.
  • Removal of toxic elements from the system that accumulate in the body due to the disorder.

Why Eternal Hospital?
At Eternal Hospital, we have a highly qualified and dedicated team of Pediatrics who are always committed to providing the latest and most advanced medical care to all our patients. Being a trusted name in healthcare, we act compassionately while ensuring confidentiality to those who need it. We have set high standards in patient-centric premium care and outstanding patient safety, and exceptional maintenance in a timely manner. In addition, we adhere to the use of up-to-the-minute innovations to offer state-of-the-art treatments to our patients with unparalleled results.

Meet Our Team

Dr. Shiv Dayal Sharma

Director Paediatrics and Neonatology