Infant battling rare metabolic disorder saved from coma at KIMS Kurnool

Kurnool: An 18-month-old infant from Suddapalle village in Kadapa district was successfully saved from a life-threatening coma caused by a rare genetic metabolic disorder, Primary Carnitine Deficiency (PCD), due to the timely intervention of doctors at KIMS Kurnool.

Infant began having seizures

The child, born to a couple in a consanguineous (blood-related) marriage, was rushed to the hospital after a rapid decline in her health. Two days prior, she developed a fever, stopped eating, became extremely weak and experienced frequent vomiting.

Alarming her parents, she eventually began having seizures.

Dangerous levels of ammonia and lactic acid

The baby was already in a coma and suffering from repeated seizures by the time the parents arrived with the child at the hospital.

Initially, doctors suspected common fatigue from the fever and vomiting, according to Dr Swetha Rampally, consultant paediatric neurologist.

However, blood tests quickly revealed dangerously high levels of ammonia and lactic acid, indicating severe toxicity. The medical team started peritoneal dialysis to remove the toxins and put the child on a ventilator for life support. Intravenous fluids and medications were also administered to manage the seizures and reduce fatigue.

“The timely intervention and comprehensive treatment helped the baby recover significantly within just one week,” Dr Rampally noted. As her condition stabilised, dialysis and ventilator support were successfully withdrawn.

Marriage in the family could be a cause

While managing the emergency, doctors sought the underlying cause of the severe illness. Questioning the parents revealed the consanguineous marriage and a concerning family history of unexplained infant deaths on the mother's side.

This pointed towards a genetic disorder.

Further specialised tests confirmed the diagnosis of Primary Carnitine Deficiency (PCD), an extremely rare genetic metabolic disorder occurring in approximately one in 40,000 to 1,20,000 children.

What is Primary Carnitine Deficiency?

PCD impairs the body’s ability to convert food into energy and prevents the proper removal of waste, which is critical, especially during times of illness or fasting. Symptoms in affected children can include poor appetite, fatigue, failure to gain weight, developmental delays and seizures. In severe cases, like this toddler’s, the condition can lead to a coma.

Lifelong care for PCD patients

Dr Rampally highlighted that such genetic conditions are more commonly observed in children born to closely related parents.

She strongly emphasised the importance of full disclosure of family medical history.

“With timely genetic counselling and prenatal testing, the risk to future children can be assessed,” she stated, adding that even after birth, specific genetic tests can aid in early detection.

Children diagnosed with PCD require lifelong care, including a carefully controlled diet where certain foods are avoided and others are increased. Specialised protein supplements are essential, and some medications and vaccines must be avoided. Specific supplements must be taken for life to prevent life-threatening episodes and ensure normal bodily function.

Dr Swetha said, “What may seem like a simple fever or tiredness in a child could, in rare cases, be the sign of a serious metabolic disorder. Early diagnosis, proper genetic counselling and consistent treatment are the keys to managing such conditions and ensuring the child leads a healthy life.”