Almost two in three — 61% — patients admitted to Delhi’s Indraprastha Apollo Hospital are malnourished on admission, which influences how quickly they bounce back after surgery.
The problem, say clinical nutritionists, is not always imbalanced diets but also “Inborn Errors of Metabolism,” another name for a group of rare genetic disorders in which the body cannot properly turn food into energy.
The disorders are usually caused by defects in specific proteins (essential enzymes) that help break down food.
“These disorders are present from birth but often remain undiagnosed even though they manifest early in life.
Unmetabolised food products can build up in the body and cause developmental delays, mental retardation, kidney and/or liver failure,” says Dr Anupam Sibal, group medical director and paediatrician, Apollo Hospitals.
Early diagnosis is essential as simple diet changes can help control the disorder.
The treatment — type and extent of the changes — depends on the specific metabolic error.
For example, a baby with galactosemia should avoid milk and milk products, including yoghurt, cheese, and ice-cream.
“A baby with galactosemia is unable to metabolise galactose, which reaches high levels in the body, causing damage to the liver, central nervous system and various other body systems. An infant with galactosemia may develop jaundice, vomiting, lethargy and convulsions. But galactose and lactose-free milk substitutes such as soy milk can prevent the problem,” says Sibal.
“Simple blood and urine spot screening at birth can detect many Inborn Errors of Metabolism such as phenylketonuria (PKU), galactosemia and fructose intolerance right after birth. In undiagnosed cases, the disorder may manifest as an emergency, causing seizures and coma when the child is under stress,” said Dr Suresh Vijay, consultant in paediatric-inherited metabolic disease at Birmingham Children's Hospital, UK.
The tests are inexpensive and done routinely in developed countries.
In countries with limited funds, doctors should recommend screening if there has been infant death in the family within the first few weeks or months of birth.